squamous cell neoplasm - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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

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Rat (718) Mouse (686) Human (5142) Chinchilla (598) Bonobo (642) Dog (664) Squirrel (600) Pig (650) Green Monkey (633) Naked Mole-rat (587) All
Genes (650)

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 chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793

G

checkpoint kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290

G

serine/threonine kinase receptor associated protein

NCBI chr 5:56,717,196...56,736,889
Ensembl chr 5:56,717,207...56,736,862

G

tumor protein p63

CTD Direct Evidence: marker/mechanism

NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068

adenoid squamous cell carcinoma

term browser

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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 chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328

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 chr 4:87,749,738...87,911,818
Ensembl chr 4:87,756,168...87,911,296

G

interferon-induced transmembrane protein 1-like

disease_progression

NCBI chr 2:156,364...157,650

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 6:115,496,338...115,503,974
Ensembl chr 6:115,496,326...115,503,977

anogenital venereal wart

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 20

protein:decreased expression:skin

NCBI chr15:129,172,743...129,176,069

G

CD8 subunit alpha

mRNA:decreased expression:zone of skin (human)

NCBI chr 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,029,760

G

cytotoxic T-lymphocyte associated protein 4

mRNA,protein:increased expression:multiple (human)

NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103

G

forkhead box P3

mRNA,protein:increased expression:multiple (human)

NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968

G

interleukin 10

mRNA,protein:increased expression:multiple (human)

NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378

G

interleukin 12B

treatment

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

PMID:16114559 PMID:23754510

RGD:40400714 RGD:7829774

NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929

G

interleukin 2

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

NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609

G

interleukin 21

protein:decreased expression:blood serum (human)

NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713

G

interleukin 4

treatment

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

PMID:16114559 PMID:23754510

RGD:40400714 RGD:7829774

NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365

G

interleukin 6

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

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

killer cell lectin like receptor K1

mRNA,protein:decreased expression:multiple (human)

NCBI chr 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192

G

mitogen-activated protein kinase 8

treatment

mRNA:increased expression:zone of skin (human)

NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,108,874

G

MYD88 innate immune signal transduction adaptor

mRNA,protein:increased expression:multiple (human)

NCBI chr13:22,976,951...22,979,568
Ensembl chr13:22,966,137...22,983,109

G

natural cytotoxicity triggering receptor 1

mRNA,protein:decreased expression:multiple (human)

NCBI chr 6:59,092,258...59,099,992
Ensembl chr 6:59,092,911...59,099,990

G

programmed cell death 1

mRNA,protein:increased expression:multiple (human)

NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478

G

protein tyrosine phosphatase non-receptor type 11

protein:increased expression:foreskin

NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003

G

protein tyrosine phosphatase non-receptor type 6

protein:increased expression:foreskin

NCBI chr 5:63,762,109...63,779,086
Ensembl chr 5:63,762,112...63,808,350

G

serpin family F member 1

disease_progression

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

NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470

G

transforming growth factor beta 1

mRNA,protein:increased expression:multiple (human)

NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046

G

toll like receptor 2

mRNA,protein:increased expression:multiple (human)

NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330

G

toll like receptor 3

mRNA,protein:increased expression:multiple (human)

NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291

G

toll like receptor 4

mRNA,protein:increased expression:multiple (human)

NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970

G

toll like receptor 7

mRNA,protein:increased expression:multiple (human)

NCBI chr X:9,573,178...9,576,987

G

toll like receptor 8

mRNA,protein:increased expression:multiple (human)

NCBI chr X:9,551,284...9,616,762
Ensembl chr X:9,597,604...9,616,757

G

toll like receptor 9

mRNA,protein:increased expression:multiple (human)

NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673

G

tumor necrosis factor

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

NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415

G

TNF receptor superfamily member 18

mRNA,protein:increased expression:multiple (human)

NCBI chr 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405

basaloid squamous cell carcinoma

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RGD Reference(s)

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G

patched 1

DNA:missense mutations, nonsense mutations

NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223

bladder squamous cell carcinoma

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G

phosphatase and tensin homolog

disease_progression

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

NCBI chr14:99,929,590...100,021,619

Bowen's Disease

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G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296

G

cyclin E1

associated with Vulvar Neoplasms;mRNA:increased expression:vulva

NCBI chr 6:39,919,541...39,933,224
Ensembl chr 6:39,919,624...39,933,363

G

cyclin dependent kinase inhibitor 1A

protein:increased expression:skin:

NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761

G

nuclear respiratory factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:19,008,408...19,142,678
Ensembl chr18:18,998,930...19,142,628

G

PPARG coactivator 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992

G

transcription factor A, mitochondrial

CTD Direct Evidence: marker/mechanism

NCBI chr14:92,261,713...92,279,731
Ensembl chr14:92,259,403...92,279,731

bowenoid papulosis

term browser

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PubMed Reference(s)

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G

baculoviral IAP repeat containing 3

mRNA:increased expression:perianal skin (human)

NCBI chr 9:33,003,570...33,020,252
Ensembl chr 9:33,002,734...33,020,242

G

baculoviral IAP repeat-containing protein 2

mRNA:increased expression:perianal skin (human)

NCBI chr 9:33,041,592...33,062,865
Ensembl chr 9:33,041,663...33,062,854

Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma

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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 1:17,306,364...17,663,117
Ensembl chr 1:17,306,373...17,511,672

cervical squamous cell carcinoma

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G

adenosine deaminase RNA specific

disease_progression

protein:increased expression:cervix squamous epithelium (human)

NCBI chr 4:95,154,230...95,197,308
Ensembl chr 4:95,154,357...95,197,304

G

BCL2 associated X, apoptosis regulator

protein:increased expression:uterine cervix

NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,147

G

BRCA1 interacting helicase 1

severity

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

NCBI chr12:36,498,138...36,639,847
Ensembl chr12:36,498,138...36,639,847

G

C-C motif chemokine ligand 22

severity

NCBI chr 6:19,296,726...19,301,506
Ensembl chr 6:19,296,637...19,302,737

G

C-C motif chemokine receptor 4

severity

NCBI chr13:18,860,596...18,865,987
Ensembl chr13:18,860,730...18,865,983

G

CD82 molecule

protein:decreased expression:uterine cervix

NCBI chr 2:17,751,153...17,803,172
Ensembl chr 2:17,750,660...17,803,126

G

colony stimulating factor 1 receptor

protein:increased expression:uterine cervix

NCBI chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,147...151,147,633

G

fibroblast growth factor 7

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

NCBI chr 1:122,215,878...122,278,705
Ensembl chr 1:122,215,882...122,277,750

G

fibroblast growth factor receptor 3

no_association

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

NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964

G

Fos proto-oncogene, AP-1 transcription factor subunit

disease_progression

protein:increased expression:uterine cervix

NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554

G

FOS like 1, AP-1 transcription factor subunit

protein:decreased expression:uterine cervix

NCBI chr 2:6,430,158...6,436,173
Ensembl chr 2:6,430,153...6,436,173

G

forkhead box P3

severity

NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968

G

baculoviral IAP repeat-containing protein 2

disease_progression

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

NCBI chr 9:33,041,592...33,062,865
Ensembl chr 9:33,041,663...33,062,854

G

microRNA mir-21

RNA:increased expression:cervical cell

NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358

G

microRNA mir-31

RNA:increased expression:blood serum (human)

NCBI chr 1:201,198,732...201,198,809
Ensembl chr 1:201,198,732...201,198,809

G

podoplanin

disease_progression

NCBI chr 6:73,019,063...73,050,000
Ensembl chr 6:73,019,057...73,049,996

G

SMAD family member 3

severity

NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449

G

TIMP metallopeptidase inhibitor 2

protein:decreased expression:uterine cervix

NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,834

G

transmembrane BAX inhibitor motif containing 6

disease_progression

mRNA:increased expression:uterine cervix

NCBI chr 5:15,674,028...15,692,944
Ensembl chr 5:15,674,057...15,692,936

G

TNF receptor superfamily member 4

severity

NCBI chr 6:63,523,850...63,526,672
Ensembl chr 6:63,523,804...63,526,666

G

TNF superfamily member 4

severity

NCBI chr 9:115,535,185...115,857,457
Ensembl chr 9:115,550,569...115,659,263

G

tumor protein p53

disease_progression

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

choroid plexus papilloma

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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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

epidermodysplasia verruciformis

term browser

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Source

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 chr12:3,825,374...3,848,367
Ensembl chr12:3,825,443...3,844,624

G

transmembrane channel like 8

ClinVar Annotator: match by term: Epidermodysplasia verruciformis

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

NCBI chr12:3,802,344...3,837,413
Ensembl chr12:3,817,049...3,837,363

G

trinucleotide repeat containing adaptor 6C

ClinVar Annotator: match by term: Epidermodysplasia verruciformis

NCBI chr12:3,847,522...3,939,054
Ensembl chr12:3,847,901...3,935,368

Epidermodysplasia Verruciformis 1

term browser

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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 chr12:3,825,374...3,848,367
Ensembl chr12:3,825,443...3,844,624

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 chr12:3,802,344...3,837,413
Ensembl chr12:3,817,049...3,837,363

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 chr12:3,825,374...3,848,367
Ensembl chr12:3,825,443...3,844,624

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 chr12:3,802,344...3,837,413
Ensembl chr12:3,817,049...3,837,363

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 7:55,794,834...55,798,666
Ensembl chr 7:55,794,836...55,798,590

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 chr12:21,641,263...21,645,642
Ensembl chr12:21,641,271...21,646,377

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 chr14:110,955,698...111,038,898
Ensembl chr14:110,955,582...111,038,898

G

adenylate cyclase activating polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:105,414,628...105,422,294
Ensembl chr 6:105,414,631...105,422,294

G

ajuba LIM protein

CTD Direct Evidence: marker/mechanism

NCBI chr 7:76,063,009...76,072,884
Ensembl chr 7:76,063,058...76,076,585

G

AKT serine/threonine kinase 1

disease_progression

protein:increased expression:esophagus (human)

G

aldehyde dehydrogenase 2 family member

CTD Direct Evidence: marker/mechanism

PMID:16639733 PMID:22960999

NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124

G

annexin A1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,306...226,432,279

G

ATM serine/threonine kinase

disease_progression

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

NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552

G

ATPase Na+/K+ transporting subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:52,925,697...52,932,638
Ensembl chr12:52,925,693...52,932,635

G

axin 1

disease_progression

protein:decreased expression:esophagus (human)

NCBI chr 3:41,344,908...41,393,999
Ensembl chr 3:41,337,071...41,393,997

G

alpha-2-glycoprotein 1, zinc-binding

disease_progression

NCBI chr 3:7,867,521...7,874,857

G

antizyme inhibitor 1

NCBI chr 4:34,221,368...34,257,261
Ensembl chr 4:34,234,679...34,257,134

G

beta-2-microglobulin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582

G

biliverdin reductase B

CTD Direct Evidence: marker/mechanism

NCBI chr 6:48,715,540...48,728,433
Ensembl chr 6:48,715,199...48,728,389

G

BMI1 proto-oncogene, polycomb ring finger

NCBI chr10:52,586,089...52,596,154
Ensembl chr10:52,586,509...52,596,564

G

bone morphogenetic protein 6

protein:increased expression:esophagus

NCBI chr 7:5,058,817...5,208,868
Ensembl chr 7:5,058,817...5,210,270

G

BRCA1 DNA repair associated

DNA:SNP: :rs799917 (human)

NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668

G

BRCA2 DNA repair associated

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

NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793

G

bone marrow stromal cell antigen 2

disease_progression

NCBI chr 2:60,305,306...60,308,295
Ensembl chr 2:60,305,283...60,309,697

G

BUB1 mitotic checkpoint serine/threonine kinase B

CTD Direct Evidence: marker/mechanism

NCBI chr 1:131,093,026...131,143,840
Ensembl chr 1:131,092,958...131,143,794

G

carbonic anhydrase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:51,343,548...51,353,127
Ensembl chr 4:51,302,406...51,353,126

G

carbonic anhydrase 12

severity

NCBI chr 1:108,649,277...108,710,658
Ensembl chr 1:108,649,271...108,710,651

G

carbonic anhydrase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:51,194,686...51,211,436
Ensembl chr 4:51,193,756...51,211,259

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 chr 2:66,098,263...66,102,074
Ensembl chr 2:66,098,229...66,102,132

G

capping actin protein of muscle Z-line subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:107,769,570...107,821,806
Ensembl chr 4:107,768,079...107,821,819

G

caspase 8

exacerbates

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

NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468

G

chromobox 8

severity

mRNA:increased expression:esophagus:

NCBI chr12:2,562,419...2,565,035
Ensembl chr12:2,562,374...2,565,780

G

coiled-coil alpha-helical rod protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,543,919...23,558,150
Ensembl chr 7:23,543,752...23,558,052

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: therapeutic

NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761

G

cyclin dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

cyclin dependent kinase inhibitor 2B

DNA:SNPs: :rs615552, rs573687 (human)

NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056

G

cofilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:6,471,558...6,475,019
Ensembl chr 2:6,469,254...6,475,035

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 chr 7:47,382,860...47,425,871
Ensembl chr 7:47,383,792...47,425,841

G

cholinergic receptor nicotinic alpha 7 subunit

exacerbates
disease_progression

mRNA:increased expression:esophagus (human)

PMID:27610024 PMID:33603170

RGD:151361143 RGD:151667905

NCBI chr 1:142,803,697...142,937,124
Ensembl chr 1:142,803,701...142,937,123

G

cholinergic receptor nicotinic beta 4 subunit

mRNA:increased expression:esophagus (human)

NCBI chr 7:47,338,819...47,359,064

G

chloride intracellular channel 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,842,829...23,851,162

G

CLPTM1 like

no_association
susceptibility

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

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

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

NCBI chr16:79,237,000...79,248,503
Ensembl chr16:79,237,061...79,248,500

G

collagen type XIV alpha 1 chain

disease_progression

DNA:hypermethylation

NCBI chr 4:18,690,197...18,925,111
Ensembl chr 4:18,690,198...18,924,971

G

cellular retinoic acid binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:47,602,316...47,608,865
Ensembl chr 7:47,602,192...47,608,970

G

CREB binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224

G

colony stimulating factor 1 receptor

mRNA:decreased expression:esophagus squamous epithelium (human)

NCBI chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,147...151,147,633

G

cystatin B

CTD Direct Evidence: marker/mechanism

NCBI chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646

G

C-X-C motif chemokine ligand 8

severity

mRNA:increased expression:esophagus (human)

NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861

G

C-X-C motif chemokine receptor 4

disease_progression

protein:increased expression:esophagus squamous epithelium (human)

NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232

G

cytochrome P450 family 1 subfamily A member 1

NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775

G

cytochrome P450 family 1 subfamily B member 1

protein:increased expression:esophagus (rat)

NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683

G

cytochrome P450 family 24 subfamily A member 1

susceptibility

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

NCBI chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363

G

cytochrome P450 family 26 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:70,573,551...70,593,416
Ensembl chr 3:70,572,197...70,593,408

G

DAB2 interacting protein

severity

protein:decreased expression:esophagus (human)

NCBI chr 1:261,732,280...261,859,833
Ensembl chr 1:261,659,785...261,859,830

G

DCC netrin 1 receptor

NCBI chr 1:101,518,629...103,087,021
Ensembl chr 1:101,846,100...103,083,096

G

death inducer-obliterator 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:62,126,026...62,174,095
Ensembl chr17:62,125,122...62,174,071

G

DNA methyltransferase 3 beta

disease_progression

protein:increased expression:nucleus:

NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072

G

dipeptidyl peptidase 4

protein:increased expression: esophagus

NCBI chr15:68,661,764...68,742,961
Ensembl chr15:68,660,521...68,743,663

G

ephrin B2

ameliorates
severity
exacerbates

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

PMID:17611172 PMID:29190834 PMID:31885720

RGD:153300947 RGD:153300948 RGD:153300949

NCBI chr11:74,188,337...74,232,768
Ensembl chr11:74,186,640...74,233,354

G

epidermal growth factor receptor

severity

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

PMID:10385363 PMID:21947696

NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589

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

G

euchromatic histone lysine methyltransferase 2

disease_progression

protein:increased expression:esophagus mucosa:

NCBI chr 7:23,977,683...23,992,673
Ensembl chr 7:23,977,683...23,992,697

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

PMID:17965222 PMID:25151357

NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760

G

erythrocyte membrane protein band 4.1 like 3

disease_progression

DNA:hypermethylation

NCBI chr 6:101,420,376...101,671,177
Ensembl chr 6:101,420,396...101,671,169

G

EPH receptor B4

exacerbates

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

NCBI chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783

G

erb-b2 receptor tyrosine kinase 4

susceptibility
disease_progression

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

PMID:18000820 PMID:24916311

RGD:126781764 RGD:126781765

NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,974,437...115,096,565

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

disease_progression

PMID:21165554 PMID:25613619

RGD:126781697 RGD:126781701

NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941

G

FA complementation group A

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

NCBI chr 6:253,207...300,159
Ensembl chr 6:253,207...300,152

G

fibroblast activation protein alpha

protein:increased expression: esophagus

NCBI chr15:68,831,281...68,902,416
Ensembl chr15:68,830,730...68,902,379

G

fatty acid synthase

CTD Direct Evidence: marker/mechanism

NCBI chr12:922,405...937,560
Ensembl chr12:920,509...937,561

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 chr17:8,466,099...8,580,715
Ensembl chr17:8,457,187...8,580,715

G

FAT atypical cadherin 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:71,448,491...71,531,664
Ensembl chr16:71,469,847...71,530,501

G

FAT atypical cadherin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:24,772,394...25,476,424

G

FAT atypical cadherin 4

CTD Direct Evidence: marker/mechanism

NCBI chr 8:99,141,967...99,312,131
Ensembl chr 8:99,148,496...99,310,519

G

F-box and WD repeat domain containing 7

CTD Direct Evidence: marker/mechanism

NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,844...76,699,348

G

FES proto-oncogene, tyrosine kinase

exacerbates

DNA:hypermethylation: (human)

NCBI chr 7:53,472,947...53,485,084
Ensembl chr 7:53,472,947...53,485,082

G

fibroblast growth factor receptor 4

treatment

NCBI chr 2:80,841,536...80,853,791
Ensembl chr 2:80,841,536...80,853,796

G

FKBP prolyl isomerase 1A

CTD Direct Evidence: marker/mechanism

NCBI chr17:33,910,047...33,935,212

G

forkhead box A1

onset

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

PMID:27050876 PMID:29788741

RGD:151665743 RGD:151665759

NCBI chr 7:62,471,233...62,479,638
Ensembl chr 7:62,471,249...62,479,220

G

far upstream element binding protein 1

exacerbates

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

PMID:26490982 PMID:32481602

RGD:151361192 RGD:151361197

NCBI chr 6:135,281,474...135,319,055
Ensembl chr 6:135,281,521...135,318,714

G

GDP dissociation inhibitor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:65,160,700...65,196,447
Ensembl chr10:65,160,653...65,196,447

G

glyoxalase I

CTD Direct Evidence: marker/mechanism

NCBI chr 7:34,156,194...34,183,560
Ensembl chr 7:34,157,535...34,183,528

G

glutathione peroxidase 3

disease_progression

DNA:hypermethylation

PMID:25050929 PMID:30018730

RGD:151665494 RGD:151665741

NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026

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 chr12:22,574,579...22,583,386
Ensembl chr12:22,574,584...22,582,345

G

glutathione S-transferase omega 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:115,206,434...115,216,624
Ensembl chr14:115,206,188...115,216,613

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845

G

high mobility group box 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:7,195,556...7,321,071

G

high mobility group nucleosome binding domain 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:64,541,310...64,617,345

G

homeobox B7

severity

protein:increased expression:esophageal mucosa (human)

NCBI chr12:24,861,165...24,864,675
Ensembl chr12:24,861,174...24,864,620

G

heat shock protein family A (Hsp70) member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:265,930,044...265,934,959
Ensembl chr 1:265,930,045...265,934,894

G

HtrA serine peptidase 1

ameliorates
exacerbates

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

NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,041,934...132,103,595

G

isocitrate dehydrogenase (NADP(+)) 2

severity

human cells in mouse model

NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554

G

Janus kinase 2

severity

protein:increased phosphorylation:esophagus squamous epithelium (human)

NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148

G

JunB proto-oncogene, AP-1 transcription factor subunit

exacerbates

protein:increased expression:esophagus (human)

PMID:19758438 PMID:30227324

RGD:151347669 RGD:151347672

NCBI chr 2:66,214,086...66,219,435
Ensembl chr 2:66,214,138...66,217,002

G

lysine acetyltransferase 2B

mRNA:decreased expression:esophagus (human)

NCBI chr13:6,985,151...7,099,771
Ensembl chr13:6,985,235...7,100,345

G

lysine demethylase 4C

susceptibility
severity

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

PMID:15805246 PMID:24224128

RGD:9587746 RGD:9587752

NCBI chr 1:215,071,335...215,507,778
Ensembl chr 1:215,071,419...215,507,800

G

lysine demethylase 5B

severity

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

NCBI chr10:24,739,115...24,831,537
Ensembl chr10:24,736,838...24,831,447

G

lysine demethylase 6A

ameliorates

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

PMID:25151357 PMID:29351209 PMID:31804468

RGD:150429739 RGD:150429742 RGD:9588233

NCBI chr X:39,953,764...40,154,197
Ensembl chr X:39,953,814...40,154,029

G

lysine methyltransferase 2C

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

NCBI chr18:4,993,213...5,279,668
Ensembl chr18:4,993,227...5,278,723

G

lysine methyltransferase 2D

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

PMID:25151357 PMID:29532228

RGD:150521712 RGD:9588233

NCBI chr 5:15,049,827...15,091,622

G

keratin 19

CTD Direct Evidence: marker/mechanism

NCBI chr12:21,115,453...21,119,115
Ensembl chr12:21,115,448...21,119,107

G

keratin 7

disease_progression

NCBI chr 5:17,553,192...17,570,582
Ensembl chr 5:17,555,728...17,570,581

G

keratin, type I cytoskeletal 13

CTD Direct Evidence: marker/mechanism

NCBI chr12:21,139,296...21,143,556

G

keratin, type I cytoskeletal 42

CTD Direct Evidence: marker/mechanism

NCBI chr12:21,014,182...21,022,123

G

glutathione S-transferase P-like

DNA:polymorphism: :p.I105V (human)

NCBI chr 2:5,005,498...5,009,247

G

keratin, type I cytoskeletal 14

CTD Direct Evidence: marker/mechanism

NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,074,850...21,079,391

G

lysyl oxidase like 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:7,435,861...7,540,699
Ensembl chr14:7,435,867...7,540,704

G

lymphotoxin alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299

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 chr14:4,344,496...4,404,208
Ensembl chr14:4,346,480...4,404,168

G

mitotic arrest deficient 2 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:103,927,358...103,936,669
Ensembl chr 8:103,927,353...103,936,664

G

mitogen-activated protein kinase kinase kinase 1

sexual_dimorphism

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

NCBI chr16:35,872,301...35,947,097
Ensembl chr16:35,872,131...35,946,987

G

methyl-CpG binding domain 4, DNA glycosylase

susceptibility

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

PMID:15205355 PMID:25162968

RGD:9588976 RGD:9588980

NCBI chr13:68,816,677...68,828,559
Ensembl chr13:68,816,679...68,828,580

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 chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540

G

microRNA mir-10a

miRNA:increased expression:esophagus squamous epithelium (human)

NCBI chr12:24,833,644...24,833,723
Ensembl chr12:24,833,627...24,833,730

G

microRNA mir-127

RNA:decreased expression:esophagus (human)

NCBI chr 7:121,709,636...121,709,715
Ensembl chr 7:121,709,640...121,709,720

G

microRNA mir-193a

exacerbates

miRNA:decreased expression:esophagus (human)

NCBI chr12:43,336,969...43,337,048
Ensembl chr12:43,336,969...43,337,048

G

microRNA mir-217-1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:85,341,255...85,341,361
Ensembl chr 3:85,341,255...85,341,361

G

microRNA mir-31

ameliorates

PMID:21658006 PMID:32123074

RGD:127285381 RGD:152998938

NCBI chr 1:201,198,732...201,198,809
Ensembl chr 1:201,198,732...201,198,809

G

microRNA mir-423

CTD Direct Evidence: marker/mechanism

NCBI chr12:46,211,525...46,211,604
Ensembl chr12:46,211,525...46,211,611

G

microRNA mir-432

mRNA:increased expression:esophagus (human)

NCBI chr 7:121,711,137...121,711,216
Ensembl chr 7:121,711,137...121,711,216

G

mutL homolog 1

disease_progression

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

NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757

G

matrix metallopeptidase 14

protein:increased expression: esophagus

NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,172,971...76,185,928

G

matrix metallopeptidase 2

protein:increased activity: esophagus

NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982

G

matrix metallopeptidase 9

protein:increased activity: esophagus

NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788

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 chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344

G

8-oxoguanine DNA glycosylase

CTD Direct Evidence: marker/mechanism

NCBI chr13:66,038,669...66,045,478

G

PAXIP1 associated glutamate rich protein 1

mRNA, protein:decreased expression:esophagus (human)

NCBI chr 3:18,052,679...18,056,920
Ensembl chr 3:18,052,935...18,056,837

G

PBX homeobox 3

RNA:increased expression:esophagus squamous epithelium (human)

NCBI chr 1:266,383,311...266,610,646
Ensembl chr 1:266,382,640...266,610,640

G

profilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:51,962,642...51,965,570
Ensembl chr12:51,961,952...51,965,464

G

phospholipase C epsilon 1

CTD Direct Evidence: marker/mechanism

PMID:20729852 PMID:20729853

NCBI chr14:105,422,628...105,764,736
Ensembl chr14:105,458,916...105,764,737

G

peroxiredoxin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:165,847,390...165,859,918
Ensembl chr 6:165,824,395...165,861,442

G

proteasome 20S subunit beta 9

disease_progression

NCBI chr 7:25,072,133...25,077,508
Ensembl chr 7:25,072,323...25,078,322

G

proteasome activator subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:75,161,830...75,164,531
Ensembl chr 7:75,160,766...75,164,810

G

proteasome activator subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:75,154,570...75,157,871
Ensembl chr 7:75,153,965...75,157,870

G

patched 1

disease_progression

NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:15756444 PMID:16543248 PMID:18197933

NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884

G

protein tyrosine phosphatase receptor type T

susceptibility

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

NCBI chr17:44,717,539...45,880,822
Ensembl chr17:44,714,645...45,881,041

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690

G

RPTOR independent companion of MTOR complex 2

severity
disease_progression

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

PMID:28132115 PMID:30119206 PMID:32642408

RGD:152995460 RGD:152995470 RGD:152995512

NCBI chr16:24,109,934...24,250,019
Ensembl chr16:24,109,939...24,311,132

G

ring finger protein 6

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

NCBI chr11:4,020,752...4,033,040
Ensembl chr11:4,020,852...4,031,787

G

RUNX family transcription factor 1

DNA:SNP: :rs2014300 (human)

NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189

G

RUNX family transcription factor 2

mRNA:increased expression:esophagus mucosa

NCBI chr 7:40,106,581...40,353,304
Ensembl chr 7:40,106,532...40,460,687

G

RUNX family transcription factor 3

disease_progression

mRNA:decreased expression:esophagus mucosa

NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,559...82,595,026

G

spalt like transcription factor 4

CTD Direct Evidence: marker/mechanism

NCBI chr17:53,082,610...53,103,023
Ensembl chr17:53,084,310...53,103,190

G

SET domain containing 5

disease_progression

NCBI chr13:65,759,973...65,851,747
Ensembl chr13:65,759,987...65,850,506

G

stratifin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:84,188,521...84,189,824
Ensembl chr 6:84,188,445...84,189,827

G

solute carrier family 16 member 10

protein:increased expression:esophagus

NCBI chr 1:76,998,359...77,139,534
Ensembl chr 1:76,998,359...77,138,639

G

solute carrier family 1 member 5

disease_progression

protein:increased expression:esophagus

PMID:26936531 PMID:33609949

RGD:11532833 RGD:151361149

NCBI chr 6:52,647,432...52,661,464
Ensembl chr 6:52,647,438...52,661,459

G

solute carrier family 39 member 6

CTD Direct Evidence: therapeutic

NCBI chr 6:119,861,853...119,885,836
Ensembl chr 6:119,861,846...119,885,378

G

solute carrier family 52 member 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:34,459,291...34,481,022
Ensembl chr17:34,459,359...34,481,026

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 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285

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 3:31,879,143...31,883,041
Ensembl chr 3:31,881,225...31,884,967

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:18167182 PMID:21517111

NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560

G

SRY-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:119,668,476...119,669,435
Ensembl chr13:119,668,476...119,669,435

G

spen family transcriptional repressor

associated with Neoplasm Metastasis; DNA:mutations

NCBI chr 6:75,015,565...75,107,468
Ensembl chr 6:75,015,521...75,107,033

G

stromal interaction molecule 1

exacerbates

protein:increased expression:esophagus (human)

NCBI chr 9:6,066,612...6,270,090
Ensembl chr 9:6,066,617...6,270,575

G

stimulator of interferon response cGAMP interactor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198

G

transgelin

CTD Direct Evidence: marker/mechanism

NCBI chr 9:44,561,756...44,567,385
Ensembl chr 9:44,560,785...44,567,385

G

transporter 1, ATP binding cassette subfamily B member

protein:decreased expression:esophagus

NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,768...25,074,843

G

transporter 2, ATP binding cassette subfamily B member

protein:decreased expression:esophagus

NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,043,840...25,056,922

G

transcobalamin 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:47,496,245...47,515,966
Ensembl chr14:47,502,715...47,515,965

G

telomerase reverse transcriptase

susceptibility
no_association

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

PMID:15112252 PMID:25007268 PMID:26716642

RGD:11572962 RGD:150530488 RGD:152977757

NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421

G

tet methylcytosine dioxygenase 2

severity

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

PMID:26093090 PMID:26873401 PMID:27050164

RGD:11528815 RGD:150429656 RGD:150429668

NCBI chr 8:116,413,253...116,546,976
Ensembl chr 8:116,415,267...116,545,299

G

tet methylcytosine dioxygenase 3

mRNA:decreased expression:esophagus squamous epithelium (human)

NCBI chr 3:68,918,896...69,020,406
Ensembl chr 3:68,918,933...69,020,986

G

transforming growth factor beta receptor 2

NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160

G

TNF alpha induced protein 3

severity

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

NCBI chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822

G

TNF alpha induced protein 8

CTD Direct Evidence: marker/mechanism

NCBI chr 2:123,152,349...123,285,154
Ensembl chr 2:123,152,371...123,287,941

G

tenascin XB

CTD Direct Evidence: marker/mechanism

NCBI chr 7:24,088,873...24,155,815
Ensembl chr 7:24,088,881...24,150,596

G

tumor protein p53

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

PMID:16543248 PMID:25151357 PMID:28789369

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

triosephosphate isomerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:63,839,473...63,842,853
Ensembl chr 5:63,838,506...63,843,134

G

tropomyosin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,986...109,020,035

G

tropomyosin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,251...236,410,905

G

thioredoxin domain containing 17

CTD Direct Evidence: marker/mechanism

NCBI chr12:50,734,669...50,737,309
Ensembl chr12:50,734,619...50,737,078

G

ubiquitin specific peptidase 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:121,306,031...121,376,154
Ensembl chr 1:121,306,032...121,413,223

G

VENT homeobox

CTD Direct Evidence: marker/mechanism

NCBI chr14:141,265,966...141,271,379

G

WD repeat containing antisense to TP53

disease_progression

NCBI chr12:52,954,674...52,968,371
Ensembl chr12:52,954,669...52,968,364

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 6:8,910,209...9,871,048
Ensembl chr 6:8,910,138...9,871,053

G

exportin 1

exacerbates

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

PMID:24898882 PMID:25148895

RGD:151667431 RGD:151667436

NCBI chr 3:80,255,016...80,300,260
Ensembl chr 3:80,255,146...80,300,327

G

X-ray repair cross complementing 1

no_association
susceptibility
treatment

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

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

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

NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729

Ferguson-Smith tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transforming growth factor beta receptor 1

susceptibility

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

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

NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528

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 chr12:49,573,050...49,609,232
Ensembl chr12:49,576,835...49,608,237

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 chr12:49,638,852...49,671,671
Ensembl chr12:49,635,927...49,671,613

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 chr12:49,638,852...49,671,671
Ensembl chr12:49,635,927...49,671,613

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 chr12:52,954,674...52,968,371
Ensembl chr12:52,954,669...52,968,364

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, sub-family B (MDR/TAP), member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:93,049,955...93,146,469

G

ATP binding cassette subfamily C member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:28,360,868...28,472,940
Ensembl chr 3:28,360,873...28,473,456

G

ATP binding cassette subfamily C member 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,582...111,038,898

G

ATP binding cassette subfamily G member 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,775,444...130,945,393

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

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

NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708

G

aconitate decarboxylase 1

mRNA:increased expression:cranioceervical (human)

NCBI chr11:49,077,152...49,088,218
Ensembl chr11:49,077,492...49,087,104

G

AKT serine/threonine kinase 1

CTD Direct Evidence: marker/mechanism

G

ankyrin repeat domain 17

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

NCBI chr 8:69,360,641...69,531,418
Ensembl chr 8:69,360,649...69,531,286

G

ATPase copper transporting beta

CTD Direct Evidence: marker/mechanism

NCBI chr11:15,892,549...15,942,070
Ensembl chr11:15,876,612...15,942,064

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 chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582

G

baculoviral IAP repeat containing 3

ameliorates

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

NCBI chr 9:33,003,570...33,020,252
Ensembl chr 9:33,002,734...33,020,242

G

B-Raf proto-oncogene, serine/threonine kinase

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

NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553

G

caspase 8

CTD Direct Evidence: marker/mechanism

NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468

G

cyclin A1

CTD Direct Evidence: marker/mechanism

PMID:23358896 PMID:29464035

NCBI chr11:12,396,149...12,405,357
Ensembl chr11:12,396,301...12,405,350

G

cyclin A2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:102,260,346...102,266,274
Ensembl chr 8:102,260,215...102,266,309

G

cyclin B1

CTD Direct Evidence: marker/mechanism

NCBI chr16:47,338,239...47,348,385
Ensembl chr16:47,338,110...47,348,377

G

cyclin D1

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:9796972 PMID:26909611 PMID:29464035

NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296

G

cyclin E1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:39,919,541...39,933,224
Ensembl chr 6:39,919,624...39,933,363

G

cyclin E2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:41,802,090...41,821,870
Ensembl chr 4:41,804,377...41,821,874

G

cell division cycle 73

exacerbates

protein:increased expression:squamous epithelium (human)

NCBI chr10:575,075...667,618
Ensembl chr10:575,075...667,432

G

cyclin dependent kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:21,365,723...21,372,170
Ensembl chr 5:21,365,764...21,372,168

G

cyclin dependent kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061

G

cyclin dependent kinase 6

CTD Direct Evidence: marker/mechanism

NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129

G

cyclin dependent kinase inhibitor 2A

disease_progression

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

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

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

chromodomain helicase DNA binding protein 4

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

NCBI chr 5:64,071,627...64,105,212
Ensembl chr 5:64,065,992...64,105,173

G

claudin 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:127,714,857...127,730,628
Ensembl chr13:127,712,777...127,730,657

G

contactin 4

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

NCBI chr13:58,642,653...59,642,134
Ensembl chr13:58,974,198...59,642,130

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 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224

G

catenin beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311

G

cytochrome P450 2C49

treatment

DNA:polymorphisms: :CYP2C19*2(human)

NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455

G

cytochrome P450 family 2 subfamily D member 6

treatment

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

NCBI chr 5:6,539,021...6,543,643
Ensembl chr 5:6,538,907...6,543,642

G

discoidin domain receptor tyrosine kinase 2

severity

NCBI chr 4:87,749,738...87,911,818
Ensembl chr 4:87,756,168...87,911,296

G

DNA methyltransferase 3 beta

susceptibility

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

NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072

G

epidermal growth factor receptor

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

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

NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589

G

erb-b2 receptor tyrosine kinase 2

disease_progression

NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351

G

erb-b2 receptor tyrosine kinase 4

severity

NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,974,437...115,096,565

G

FA complementation group B

DNA:hypermethylation:promoter

NCBI chr X:11,386,360...11,408,958
Ensembl chr X:11,384,912...11,409,057

G

FA complementation group D2

NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433

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 8:879,151...894,968
Ensembl chr 8:879,159...894,964

G

fibroblast growth factor receptor 4

severity

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

NCBI chr 2:80,841,536...80,853,791
Ensembl chr 2:80,841,536...80,853,796

G

fragile histidine triad diadenosine triphosphatase

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

NCBI chr13:41,443,963...42,884,799
Ensembl chr13:41,443,965...42,392,817

G

glutamate ionotropic receptor kainate type subunit 2

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

NCBI chr 1:68,052,086...68,680,448
Ensembl chr 1:68,057,538...68,679,256

G

homeobox A5

CTD Direct Evidence: marker/mechanism

NCBI chr18:45,429,691...45,432,723
Ensembl chr18:45,421,663...45,432,885

G

homeobox D10

CTD Direct Evidence: marker/mechanism

NCBI chr15:81,911,372...81,921,164
Ensembl chr15:81,917,637...81,921,461

G

homeobox D11

CTD Direct Evidence: marker/mechanism

NCBI chr15:81,906,654...81,910,765
Ensembl chr15:81,908,460...81,911,282

G

HRas proto-oncogene, GTPase

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

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

NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501

G

insulin like growth factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,121

G

interleukin 1 receptor accessory protein

CTD Direct Evidence: marker/mechanism

NCBI chr13:127,933,239...128,071,984
Ensembl chr13:127,933,693...128,043,480

G

interleukin 2

PMID:2787951 PMID:3263896

RGD:8662923 RGD:8662971

NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609

G

interleukin 28B (interferon, lambda 3)

CTD Direct Evidence: therapeutic

NCBI chr 6:47,951,925...47,953,282
Ensembl chr 6:47,951,595...47,953,467

G

inhibitor of growth family member 1

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

NCBI chr11:77,270,272...77,278,346
Ensembl chr11:77,270,320...77,277,068

G

insulin receptor substrate 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:128,245,846...128,307,321
Ensembl chr15:128,245,846...128,307,284

G

JunB proto-oncogene, AP-1 transcription factor subunit

ameliorates

human cell line in a mouse model

NCBI chr 2:66,214,086...66,219,435
Ensembl chr 2:66,214,138...66,217,002

G

KIT proto-oncogene, receptor tyrosine kinase

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

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

NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734

G

ligand of numb-protein X 1

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

NCBI chr 8:40,232,837...40,473,101
Ensembl chr 8:40,232,839...40,369,929

G

coiled-coil domain-containing protein 3

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

NCBI chr10:59,052,979...59,144,791
Ensembl chr10:59,052,915...59,144,797

G

baculoviral IAP repeat-containing protein 2

exacerbates

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

NCBI chr 9:33,041,592...33,062,865
Ensembl chr 9:33,041,663...33,062,854

G

tumor necrosis factor receptor superfamily member 10B-like

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

NCBI chr14:7,344,788...7,371,086

G

leucine rich repeat containing 56

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

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

NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699

G

O-6-methylguanine-DNA methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540

G

microRNA mir-155

NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902

G

microRNA mir-222

CTD Direct Evidence: marker/mechanism

NCBI chr X:40,571,808...40,571,887
Ensembl chr X:40,571,808...40,571,887

G

matrix metallopeptidase 2

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

NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982

G

NLR family apoptosis inhibitory protein

ameliorates

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

NCBI chr16:47,700,869...47,710,036

G

nicotinamide phosphoribosyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:106,119,896...106,162,126
Ensembl chr 9:106,119,899...106,294,586

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:8,014,445...8,069,335
Ensembl chr 4:8,014,446...8,069,335

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr X:123,906,130...123,921,935
Ensembl chr X:123,906,199...123,929,117

G

8-oxoguanine DNA glycosylase

susceptibility

DNA:SNP: :rs1052133 (human)

PMID:21727658 PMID:22081374

RGD:8657144 RGD:8657147

NCBI chr13:66,038,669...66,045,478

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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587

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 6:57,929,520...57,964,948
Ensembl chr 6:57,921,329...57,964,961

G

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

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

NCBI chr 4:66,712,412...66,996,258
Ensembl chr 4:66,715,237...66,996,044

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 chr14:99,929,590...100,021,619

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884

G

protein tyrosine phosphatase non-receptor type 13

susceptibility

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

PMID:19672627 PMID:19892796

RGD:152176661 RGD:152176665

NCBI chr 8:132,035,170...132,200,425
Ensembl chr 8:132,035,151...132,249,411

G

RAS guanyl releasing protein 3

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

NCBI chr 3:106,098,541...106,213,787
Ensembl chr 3:106,099,821...106,213,728

G

RB transcriptional corepressor 1

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

NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690

G

sterile alpha motif domain containing 4A

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

NCBI chr 1:183,915,337...184,140,122
Ensembl chr 1:183,915,512...184,140,115

G

serpin family E member 1

severity

protein:increased expression:oral mucosa (human)

NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547

G

SMAD family member 4

NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029

G

syntrophin beta 1

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

NCBI chr 4:18,288,756...18,524,362
Ensembl chr 4:18,288,843...18,526,215

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560

G

signal transducer and activator of transcription 3

treatment

CTD Direct Evidence: marker/mechanism

PMID:24395569 PMID:27064016

NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992

G

serine/threonine kinase 11

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

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

NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327

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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

vesicle associated membrane protein 7

CTD Direct Evidence: marker/mechanism

NCBI chr X:125,863,266...125,917,232
Ensembl chr X:125,863,292...125,917,225

G

WEE1 G2 checkpoint kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:49,880,416...49,894,509
Ensembl chr 2:49,880,435...49,894,499

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 chr12:52,954,674...52,968,371
Ensembl chr12:52,954,669...52,968,364

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,226...32,925,606

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 chr12:21,641,263...21,645,642
Ensembl chr12:21,641,271...21,646,377

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 chr15:107,128,103...107,155,431
Ensembl chr15:107,128,203...107,162,935

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 8:31,321,005...31,372,366
Ensembl chr 8:31,321,059...31,372,364

immunodeficiency 130

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 7

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

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

NCBI chr 4:57,677,895...57,744,713
Ensembl chr 4:57,684,796...57,744,709

inverted papilloma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 1A

protein:increased expression:nucleus:

PMID:19863319 PMID:21608063

RGD:8662353 RGD:8662357

NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761

G

hepatocyte growth factor

protein:increased expression:inferior nasal concha:

NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564

G

kinase insert domain receptor

protein:increased expression:inferior nasal concha:

NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336

G

vascular endothelial growth factor A

protein:increased expression:inferior nasal concha:

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

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

G

notch receptor 2

ClinVar Annotator: match by term: Keratoacanthoma

NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195

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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587

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 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884

G

alpha-1-antichymotrypsin 2

protein:decreased expression:serum

NCBI chr 7:115,978,453...115,987,392
Ensembl chr 7:115,976,397...115,987,453

G

transporter 1, ATP binding cassette subfamily B member

NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,768...25,074,843

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 chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245

G

catalase

protein:increased activity:larynx

NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452

G

cell division cycle 73

disease_progression

protein:decreased expression:larynx (human)

NCBI chr10:575,075...667,618
Ensembl chr10:575,075...667,432

G

cyclin dependent kinase inhibitor 1A

NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761

G

chromodomain helicase DNA binding protein 4

exacerbates

mRNA:increased expression:larynx (human)

NCBI chr 5:64,071,627...64,105,212
Ensembl chr 5:64,065,992...64,105,173

G

epidermal growth factor receptor

disease_progression

NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589

G

erb-b2 receptor tyrosine kinase 2

disease_progression

NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351

G

erb-b2 receptor tyrosine kinase 3

disease_progression

NCBI chr 5:21,474,218...21,495,040
Ensembl chr 5:21,474,475...21,495,038

G

erb-b2 receptor tyrosine kinase 4

disease_progression

NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,974,437...115,096,565

G

forkhead box L2

exacerbates

mRNA:increased expression:larynx (human)

NCBI chr13:79,708,693...79,709,825
Ensembl chr13:79,708,693...79,709,825

G

glutathione peroxidase 1

disease_progression
no_association

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

PMID:24074040 PMID:27188866 PMID:28641905

RGD:152995454 RGD:152995455 RGD:152995493

NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433

G

mitogen-activated protein kinase kinase 4

severity

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

NCBI chr12:56,402,029...56,516,217
Ensembl chr12:56,402,075...56,516,238

G

microRNA mir-10a

severity

miRNA:decreased expression:blood serum (human)

NCBI chr12:24,833,644...24,833,723
Ensembl chr12:24,833,627...24,833,730

G

microRNA mir-136

RNA:decreased expression:larynx (human)

NCBI chr 7:121,711,328...121,711,409
Ensembl chr 7:121,711,325...121,711,414

G

microRNA mir-21

exacerbates

miRNA:increased expression:blood serum (human)

NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358

G

microRNA mir-31

disease_progression

RNA:decreased expression:mucosa of larynx (human)

NCBI chr 1:201,198,732...201,198,809
Ensembl chr 1:201,198,732...201,198,809

G

mutL homolog 1

disease_progression

mRNA:decreased expression:larynx

NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757

G

matrix metallopeptidase 2

NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982

G

mutS homolog 2

disease_progression

mRNA:decreased expression:larynx

NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585

G

phospholipase C gamma 1

ameliorates

mRNA:increased expression:larynx (human)

NCBI chr17:43,810,003...43,844,553
Ensembl chr17:43,810,048...43,844,554

G

RELA proto-oncogene, NF-kB subunit

severity

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

NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469

G

xanthine dehydrogenase

protein:increased activity:larynx

NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169

G

X-ray repair cross complementing 1

ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma

NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729

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 chr 3:109,411,146...110,105,755

G

Rho GTPase activating protein 44

mRNA:decreased expression:lung (human)

NCBI chr12:57,049,900...57,206,706
Ensembl chr12:57,049,895...57,206,889

G

AT-rich interaction domain 1A

exacerbates

protein:decreased expression:lung (human)

NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349

G

actin related protein 2/3 complex subunit 5

mRNA:increased expression:lung (human)

NCBI chr 9:124,839,062...124,847,906
Ensembl chr 9:124,837,765...124,848,105

G

ATM serine/threonine kinase

susceptibility

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

NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552

G

ATRX chromatin remodeler

severity

NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287

G

baculoviral IAP repeat containing 5

disease_progression

mRNA:increased expression:lung (human)

NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,279...3,755,215

G

baculoviral IAP repeat containing 6

disease_progression

mRNA:increased expression:lung (human)

NCBI chr 3:107,012,967...107,269,370
Ensembl chr 3:107,012,986...107,269,477

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 chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553

G

basigin

mRNA:increased expression:lung

NCBI chr 2:77,735,586...77,743,451

G

Cbl proto-oncogene B

disease_progression

NCBI chr13:153,480,525...153,700,115
Ensembl chr13:153,395,978...153,700,056

G

cyclin D1

disease_progression

protein:increased expression:lung

NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296

G

cyclin D2

DNA:hypermethylation:promoter

NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571

G

cyclin dependent kinase 4

protein:increased expression:lung

NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061

G

cyclin dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Squamous cell lung carcinoma

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

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

chromodomain helicase DNA binding protein 4

mRNA:increased expression:lung (human)

NCBI chr 5:64,071,627...64,105,212
Ensembl chr 5:64,065,992...64,105,173

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 chr 7:47,382,860...47,425,871
Ensembl chr 7:47,383,792...47,425,841

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 chr 7:47,338,819...47,359,064

G

CLPTM1 like

susceptibility
no_association

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

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

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

NCBI chr16:79,237,000...79,248,503
Ensembl chr16:79,237,061...79,248,500

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 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224

G

colony stimulating factor 1 receptor

protein:increased expression:lung (human)

NCBI chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,147...151,147,633

G

catenin beta 1

disease_progression

protein:increased expression:lung

NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311

G

cytochrome c, somatic

treatment

NCBI chr18:47,169,921...47,172,212
Ensembl chr18:47,169,866...47,173,866

G

cytochrome P450 family 1 subfamily B member 1

susceptibility

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

NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683

G

discoidin domain receptor tyrosine kinase 2

severity

ClinVar Annotator: match by term: Squamous cell lung carcinoma

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

NCBI chr 4:87,749,738...87,911,818
Ensembl chr 4:87,756,168...87,911,296

G

E2F transcription factor 1

treatment

NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,599...37,189,883

G

E2F transcription factor 3

NCBI chr 7:15,793,519...15,870,213
Ensembl chr 7:15,794,178...15,870,204

G

eukaryotic translation elongation factor 2

disease_progression

protein:increased expression:lung (human)

NCBI chr 2:74,746,541...74,756,687
Ensembl chr 2:74,747,080...74,756,680

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Squamous cell lung carcinoma

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

NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589

G

empty spiracles homeobox 2

exacerbates

protein:decreased expression:lung (human)

NCBI chr14:127,649,675...127,656,972
Ensembl chr14:127,650,688...127,655,706

G

ERCC excision repair 6, chromatin remodeling factor

mRNA, protein:increased expression:lung (human)

NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898

G

ERCC excision repair 6 like, spindle assembly checkpoint helicase

mRNA:increased expression:lung (human)

NCBI chr X:58,087,216...58,117,942
Ensembl chr X:58,087,169...58,117,947

G

fibroblast activation protein alpha

disease_progression

NCBI chr15:68,831,281...68,902,416
Ensembl chr15:68,830,730...68,902,379

G

F-box and WD repeat domain containing 7

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

PMID:25741868 PMID:26619011

NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,844...76,699,348

G

fibroblast growth factor 9

mRNA:decreased expression:lung (human)

NCBI chr11:1,554,648...1,581,938
Ensembl chr11:1,554,763...1,582,408

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425

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 8:879,151...894,968
Ensembl chr 8:879,159...894,964

G

fibroblast growth factor receptor 4

disease_progression

human cells in mouse model

NCBI chr 2:80,841,536...80,853,791
Ensembl chr 2:80,841,536...80,853,796

G

frizzled related protein

protein:decreased expression:lung (human)

NCBI chr15:88,332,856...88,377,275
Ensembl chr15:88,332,860...88,377,247

G

far upstream element binding protein 1

mRNA:decreased expression:lung (human)

NCBI chr 6:135,281,474...135,319,055
Ensembl chr 6:135,281,521...135,318,714

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 chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Squamous cell lung carcinoma

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

NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501

G

isocitrate dehydrogenase (NADP(+)) 1

protein:increased expression:blood plasma (human)

NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296

G

isocitrate dehydrogenase (NADP(+)) 2

severity
susceptibility

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

PMID:27649069 PMID:29465809 PMID:30128035

RGD:149735564 RGD:149735566 RGD:149735567

NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734

G

lysine methyltransferase 2D

disease_progression

PMID:24323028 PMID:28177435 PMID:30885352

RGD:150523770 RGD:150523776 RGD:150523777

NCBI chr 5:15,049,827...15,091,622

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 chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

laminin subunit gamma 2

disease_progression

NCBI chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Squamous cell lung carcinoma

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

NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699

G

mitogen-activated protein kinase kinase 1

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226

G

mitogen-activated protein kinase kinase 7

mRNA:decreased expression:lung (human)

NCBI chr 2:71,299,010...71,308,432
Ensembl chr 2:71,298,325...71,308,124

G

MET proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512

G

microRNA mir-193a

exacerbates

DNA:Hypermethylation

NCBI chr12:43,336,969...43,337,048
Ensembl chr12:43,336,969...43,337,048

G

microRNA mir-20a

NCBI chr11:60,735,109...60,735,179
Ensembl chr11:60,735,099...60,735,196

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 chr 1:201,198,732...201,198,809
Ensembl chr 1:201,198,732...201,198,809

G

microRNA mir-497

NCBI chr12:52,422,329...52,422,408
Ensembl chr12:52,422,330...52,422,411

G

microRNA mir-9-3

exacerbates

DNA:Hypermethylation

NCBI chr 7:54,948,452...54,948,532
Ensembl chr 7:54,948,447...54,948,536

G

platelet derived growth factor receptor alpha

ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441

G

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

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587

G

DNA polymerase epsilon, catalytic subunit

ameliorates

DNA:mutations:multiple (human)

NCBI chr14:22,798,146...22,852,818
Ensembl chr14:22,798,192...22,853,547

G

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

mRNA:increased expression:lung (human)

NCBI chr 4:66,712,412...66,996,258
Ensembl chr 4:66,715,237...66,996,044

G

patched 1

disease_progression

DNA:CNVs

NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr14:99,929,590...100,021,619

G

protein tyrosine kinase 2

severity

NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,614...2,896,054

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 chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003

G

protein tyrosine phosphatase non-receptor type 13

susceptibility
severity

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

PMID:19672627 PMID:22245727 PMID:23906871

RGD:152176663 RGD:152176664 RGD:152176665

NCBI chr 8:132,035,170...132,200,425
Ensembl chr 8:132,035,151...132,249,411

G

protein tyrosine phosphatase receptor type J

susceptibility

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

NCBI chr 2:14,548,489...14,724,823
Ensembl chr 2:14,548,428...14,724,474

G

RAD52 homolog, DNA repair protein

susceptibility
ameliorates

DNA:SNP: (rs6489769) (human)

PMID:22585858 PMID:28415565

RGD:151660334 RGD:151660345

NCBI chr 5:68,140,846...68,223,587
Ensembl chr 5:68,143,646...68,169,670

G

surfactant protein B

susceptibility

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

PMID:12107845 PMID:16570259

RGD:151667424 RGD:4143389

NCBI chr 3:59,101,940...59,113,442
Ensembl chr 3:59,101,981...59,112,396

G

solute carrier family 7 member 5

NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285

G

SRY-box transcription factor 30

disease_progression

NCBI chr16:65,642,107...65,677,693
Ensembl chr16:65,642,223...65,678,047

G

SRC proto-oncogene, non-receptor tyrosine kinase

severity

NCBI chr17:40,470,970...40,524,862
Ensembl chr17:40,471,009...40,524,860

G

serine and arginine rich splicing factor 1

protein:increased expression:lung epithelium

NCBI chr12:34,278,363...34,282,164
Ensembl chr12:34,272,956...34,282,162

G

serine and arginine rich splicing factor 2

protein:increased expression:lung epithelium,nucleus

NCBI chr12:4,800,578...4,803,767
Ensembl chr12:4,800,624...4,801,675

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Squamous cell lung carcinoma

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

NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327

G

telomerase reverse transcriptase

susceptibility

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

PMID:23908149 PMID:31935503

RGD:150530498 RGD:150530635

NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421

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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

tumor protein p73

treatment

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

PMID:27246533 PMID:30420492

RGD:151347580 RGD:151347584

NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990

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 chr 5:17,314,322...17,350,726
Ensembl chr 5:17,314,276...17,350,722

G

adenosine deaminase

treatment

NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245

G

ADAM metallopeptidase with thrombospondin type 1 motif 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:79,182,901...79,406,879
Ensembl chr 2:79,182,943...79,406,875

G

argonaute RISC component 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:92,038,104...92,076,477
Ensembl chr 6:91,984,303...92,215,149

G

argonaute RISC catalytic component 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:2,966,794...3,012,388
Ensembl chr 4:2,919,511...3,015,334

G

annexin A2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:111,588,721...111,635,064
Ensembl chr 1:111,588,306...111,635,059

G

apolipoprotein A1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713

G

BRCA1 associated deubiquitinase 1

CTD Direct Evidence: marker/mechanism

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

NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483

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 4:130,645,427...130,653,317
Ensembl chr 4:130,645,216...130,657,995

G

BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879

G

complement C9

CTD Direct Evidence: marker/mechanism

NCBI chr16:24,521,318...24,575,939
Ensembl chr16:24,520,634...24,590,338

G

calbindin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:14,392,220...14,420,663
Ensembl chr 6:14,391,857...14,420,663

G

C-C motif chemokine ligand 27

CTD Direct Evidence: marker/mechanism

NCBI chr10:32,138,232...32,138,980
Ensembl chr10:32,138,232...32,138,974

G

chemokine (C-C motif) ligand 3-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:39,491,999...39,493,345
Ensembl chr12:39,491,914...39,493,774

G

C-C motif chemokine ligand 5

CTD Direct Evidence: marker/mechanism

NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118

G

cyclin E2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:41,802,090...41,821,870
Ensembl chr 4:41,804,377...41,821,874

G

CD40 molecule

treatment

NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528

G

cadherin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 6:27,108,560...27,142,145
Ensembl chr 6:27,108,597...27,142,177

G

cyclin dependent kinase 6

CTD Direct Evidence: marker/mechanism

NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761

G

cyclin dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

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

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

cilia and flagella associated protein 45

CTD Direct Evidence: marker/mechanism

NCBI chr 4:90,593,864...90,626,660
Ensembl chr 4:90,593,858...90,627,800

G

claudin 10

CTD Direct Evidence: marker/mechanism

NCBI chr11:65,027,706...65,145,002
Ensembl chr11:65,121,607...65,145,072

G

claudin 15

CTD Direct Evidence: marker/mechanism

NCBI chr 3:8,931,099...8,937,189
Ensembl chr 3:8,931,097...8,937,184

G

claudin 4

CTD Direct Evidence: marker/mechanism

NCBI chr 3:11,039,711...11,053,930
Ensembl chr 3:11,039,706...11,053,925

G

claudin 5

CTD Direct Evidence: marker/mechanism

NCBI chr14:51,161,490...51,162,382
Ensembl chr14:51,161,042...51,163,482

G

claudin 8

CTD Direct Evidence: marker/mechanism

NCBI chr13:193,563,314...193,564,090
Ensembl chr13:193,562,074...193,564,168

G

C-type lectin domain containing 11A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:55,502,892...55,505,690
Ensembl chr 6:55,496,746...55,506,550

G

collagen type XII alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 1:90,744,409...90,875,127
Ensembl chr 1:90,744,612...90,875,118

G

COPI coat complex subunit gamma 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:71,707,097...71,730,402
Ensembl chr13:71,672,733...71,730,399

G

colony stimulating factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,475...110,197,900

G

catenin beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311

G

C-X-C motif chemokine ligand 12

CTD Direct Evidence: marker/mechanism

NCBI chr14:91,516,383...91,543,857
Ensembl chr14:91,516,431...91,552,752

G

C-X-C motif chemokine ligand 13

CTD Direct Evidence: marker/mechanism

NCBI chr 8:73,071,261...73,077,342

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

PMID:25162674 PMID:28377727

NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861

G

C-X-C motif chemokine ligand 9

CTD Direct Evidence: marker/mechanism

NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271

G

DEAD-box helicase 3 X-linked

CTD Direct Evidence: marker/mechanism

NCBI chr X:36,988,031...37,005,496
Ensembl chr X:36,988,031...37,018,202

G

DEAD-box helicase 51

CTD Direct Evidence: marker/mechanism

NCBI chr14:23,262,738...23,269,905
Ensembl chr14:23,262,776...23,270,896

G

EGF containing fibulin extracellular matrix protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:85,407,677...85,473,251
Ensembl chr 3:85,407,677...85,473,252

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589

G

ecto-NOX disulfide-thiol exchanger 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:107,084,378...107,368,520
Ensembl chr X:107,085,503...107,368,473

G

epoxide hydrolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:13,757,489...13,773,071
Ensembl chr10:13,751,881...13,773,072

G

coagulation factor IX

CTD Direct Evidence: marker/mechanism

NCBI chr X:114,218,704...114,250,436
Ensembl chr X:114,218,707...114,250,429

G

FYVE, RhoGEF and PH domain containing 6

CTD Direct Evidence: marker/mechanism

NCBI chr 5:88,087,032...88,229,807
Ensembl chr 5:88,104,899...88,221,828

G

fibroblast growth factor 18

CTD Direct Evidence: marker/mechanism

NCBI chr16:52,724,867...52,760,246
Ensembl chr16:52,725,356...52,759,791

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

NCBI chr11:1,554,648...1,581,938
Ensembl chr11:1,554,763...1,582,408

G

fibronectin 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,043

G

ferritin heavy chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:9,535,051...9,537,979

G

G protein-coupled receptor 27

CTD Direct Evidence: marker/mechanism

NCBI chr13:53,152,038...53,154,537
Ensembl chr13:53,152,062...53,153,192

G

G protein-coupled receptor 37

CTD Direct Evidence: marker/mechanism

NCBI chr18:23,019,752...23,036,483
Ensembl chr18:23,019,749...23,038,356

G

histone deacetylase 4

CTD Direct Evidence: marker/mechanism

NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301

G

hephaestin

CTD Direct Evidence: marker/mechanism

NCBI chr X:52,314,911...52,397,384
Ensembl chr X:52,314,935...52,397,380

G

hepatocyte growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564

G

HtrA serine peptidase 1

disease_progression

protein:increased expression:mesothelium (human)

NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,041,934...132,103,595

G

intercellular adhesion molecule 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:14,986,636...14,991,639
Ensembl chr12:14,972,852...14,997,428

G

interferon gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670

G

insulin like growth factor 2 mRNA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:92,104,786...92,272,264
Ensembl chr 9:92,104,848...92,272,211

G

interleukin 12B

CTD Direct Evidence: marker/mechanism

NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,121

G

interleukin 2 receptor subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr10:64,948,149...65,001,320
Ensembl chr10:64,948,563...65,001,142

G

interleukin 4

CTD Direct Evidence: marker/mechanism

NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

integrin linked kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:3,145,647...3,152,097
Ensembl chr 9:3,145,608...3,159,858

G

lysine acetyltransferase 5

CTD Direct Evidence: therapeutic

NCBI chr 2:6,560,544...6,572,461
Ensembl chr 2:6,560,513...6,572,466

G

KIT proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734

G

LIM and calponin homology domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:32,433,035...32,792,553
Ensembl chr 8:32,433,318...32,792,546

G

kallistatin

CTD Direct Evidence: marker/mechanism

NCBI chr 7:115,781,772...115,792,469
Ensembl chr 7:115,783,931...115,792,466

G

C-C motif chemokine 23

CTD Direct Evidence: marker/mechanism

NCBI chr12:39,591,521...39,595,639

G

mesothelin

CTD Direct Evidence: marker/mechanism

PMID:19190155 PMID:27032653

NCBI chr 3:41,025,892...41,029,302

G

lymphotoxin alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299

G

melanoma cell adhesion molecule

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:22784439 PMID:23621518

NCBI chr 9:46,506,375...46,522,091
Ensembl chr 9:46,512,784...46,522,083

G

midkine

CTD Direct Evidence: marker/mechanism

NCBI chr 2:16,130,787...16,133,791
Ensembl chr 2:16,130,788...16,133,510

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512

G

macrophage migration inhibitory factor

CTD Direct Evidence: marker/mechanism

NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068

G

microRNA mir-125a

CTD Direct Evidence: marker/mechanism

NCBI chr 6:58,331,566...58,331,645
Ensembl chr 6:58,331,566...58,331,645

G

microRNA mir-126

CTD Direct Evidence: marker/mechanism

G

microRNA mir-32

CTD Direct Evidence: marker/mechanism

NCBI chr 1:250,115,904...250,115,973
Ensembl chr 1:250,115,904...250,115,973

G

melan-A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:216,230,472...216,247,171
Ensembl chr 1:216,232,832...216,245,359

G

myotubularin related protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr12:34,745,232...34,771,315
Ensembl chr12:34,745,236...34,771,167

G

mucin 1, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chr 4:94,626,317...94,631,194

G

nanos C2HC-type zinc finger 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:128,962,311...128,964,207
Ensembl chr14:128,962,375...128,963,229

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 chr14:46,653,869...46,726,421
Ensembl chr14:46,653,900...46,731,999

G

nerve growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,749...105,307,837

G

oncostatin M receptor

CTD Direct Evidence: marker/mechanism

NCBI chr16:24,041,312...24,101,842
Ensembl chr16:24,041,567...24,102,177

G

poly(ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196

G

podoplanin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:73,019,063...73,050,000
Ensembl chr 6:73,019,057...73,049,996

G

plasmolipin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:19,214,037...19,241,251
Ensembl chr 6:19,211,761...19,241,228

G

protein tyrosine phosphatase receptor type F

CTD Direct Evidence: marker/mechanism

NCBI chr 6:167,656,674...167,743,750
Ensembl chr 6:167,657,680...167,743,721

G

PYD and CARD domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr 3:17,305,921...17,307,521
Ensembl chr 3:17,306,099...17,307,786

G

Raf-1 proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr13:68,581,128...68,657,911
Ensembl chr13:68,580,812...68,657,829

G

retinoid X receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 1:273,698,842...273,797,622
Ensembl chr 1:273,705,505...273,797,620

G

ryanodine receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063

G

S100 calcium binding protein B

CTD Direct Evidence: marker/mechanism

G

syndecan 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:117,987,585...118,011,886
Ensembl chr 3:117,987,557...118,011,884

G

ssemaphorin 4F

CTD Direct Evidence: marker/mechanism

NCBI chr 3:68,377,669...68,404,662
Ensembl chr 3:68,379,322...68,404,595

G

SET domain containing 2, histone lysine methyltransferase

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

PMID:26928227 PMID:27834213

NCBI chr13:29,884,708...29,996,285
Ensembl chr13:29,884,719...29,996,359

G

SET domain bifurcated histone lysine methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:98,259,801...98,293,238
Ensembl chr 4:98,260,375...98,293,097

G

splicing factor 3b subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:101,274,968...101,338,018
Ensembl chr15:101,276,851...101,299,105

G

sex hormone binding globulin

CTD Direct Evidence: marker/mechanism

NCBI chr12:52,914,711...52,919,092

G

solute carrier family 22 member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 2:134,660,741...134,847,575
Ensembl chr 2:134,660,808...134,686,219

G

solute carrier family 2 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 1:219,624,773...219,815,438
Ensembl chr 1:219,573,535...219,815,421

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560

G

TBL1X/Y related 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:115,312,444...115,488,228
Ensembl chr13:115,312,452...115,487,284

G

transferrin

CTD Direct Evidence: marker/mechanism

NCBI chr13:74,930,655...74,970,599
Ensembl chr13:74,930,655...74,972,763

G

transcription factor Dp-2

CTD Direct Evidence: marker/mechanism

NCBI chr13:82,752,446...82,937,790
Ensembl chr13:82,752,458...82,937,668

G

transforming growth factor beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341

G

TNF receptor superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 6:72,103,309...72,174,882

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

PMID:26928227 PMID:37441092

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

TNF receptor associated factor 7

CTD Direct Evidence: marker/mechanism

NCBI chr 3:39,811,803...39,828,450
Ensembl chr 3:39,810,606...39,828,395

G

thioredoxin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:251,264,180...251,278,000
Ensembl chr 1:251,263,175...251,277,988

G

unc-51 like autophagy activating kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:59,806,904...59,878,398
Ensembl chr12:59,806,955...59,878,388

G

vimentin

CTD Direct Evidence: marker/mechanism

NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,170

G

WT1 transcription factor

ClinVar Annotator: match by term: Mesothelioma, malignant

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

NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997

G

WW and C2 domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:55,418,391...55,595,202
Ensembl chr16:55,418,397...55,595,189

G

X-ray repair cross complementing 1

treatment

NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729

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 chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483

G

baculoviral IAP repeat containing 5

exacerbates

mRNA:increased expression:pleura, lung (human)

NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,279...3,755,215

G

baculoviral IAP repeat containing 7

ameliorates

mRNA:increased expression:pleura, lung (human)

NCBI chr17:62,351,663...62,356,220

G

cholinergic receptor nicotinic alpha 7 subunit

ameliorates

NCBI chr 1:142,803,697...142,937,124
Ensembl chr 1:142,803,701...142,937,123

G

colony stimulating factor 1 receptor

mRNA:increased expression:peritoneum�� (human)

NCBI chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,147...151,147,633

G

empty spiracles homeobox 2

exacerbates

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

NCBI chr14:127,649,675...127,656,972
Ensembl chr14:127,650,688...127,655,706

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

disease_progression

mRNA, protein:increased expression:pleura

NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941

G

interleukin 7 receptor

disease_progression

NCBI chr16:21,300,141...21,330,156
Ensembl chr16:21,300,111...21,329,585

G

lysine demethylase 6A

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

NCBI chr X:39,953,764...40,154,197
Ensembl chr X:39,953,814...40,154,029

G

microRNA mir-192

miRNA:decreased expression:pleura (human)

NCBI chr 2:7,285,667...7,285,746
Ensembl chr 2:7,285,667...7,285,746

G

microRNA mir-193a

miRNA:decreased expression:pleura (human)

NCBI chr12:43,336,969...43,337,048
Ensembl chr12:43,336,969...43,337,048

G

mutL homolog 1

disease_progression

NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757

G

nuclear receptor coactivator 2

ameliorates

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

NCBI chr 4:64,888,029...65,245,757
Ensembl chr 4:64,954,238...65,246,572

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 chr14:46,653,869...46,726,421
Ensembl chr14:46,653,900...46,731,999

G

RAD21 cohesin complex component

NCBI chr 4:21,772,821...21,802,453
Ensembl chr 4:21,772,855...21,802,715

G

SET domain containing 2, histone lysine methyltransferase

disease_progression

DNA:mutations:CDS:multiple (human)

PMID:26928227 PMID:33691361

RGD:150429647 RGD:150520202

NCBI chr13:29,884,708...29,996,285
Ensembl chr13:29,884,719...29,996,359

G

solute carrier family 7 member 5

disease_progression

protein:increased expression:pleura

PMID:22199264 PMID:24912849

RGD:151361201 RGD:151660330

NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285

G

smoothened, frizzled class receptor

disease_progression

DNA:missense mutations

PMID:23379358 PMID:33209614

RGD:150521620 RGD:150521621

NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,743...19,478,898

G

X-linked inhibitor of apoptosis

ameliorates

mRNA:increased expression:pleura, lung (human)

NCBI chr X:101,399,374...101,440,021
Ensembl chr X:101,399,812...101,440,013

maxillary sinus squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 1A

NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761

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 chr12:51,479,968...51,495,540

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 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708

G

adenosine deaminase

disease_progression

NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245

G

ArfGAP with GTPase domain, ankyrin repeat and PH domain 2

disease_progression

NCBI chr 5:23,015,777...23,035,943
Ensembl chr 5:23,017,176...23,033,517

G

aldehyde dehydrogenase 1 family member A1

protein:increased expression:oral epithelium

NCBI chr 1:226,163,347...226,217,342
Ensembl chr 1:226,161,299...226,217,308

G

angiopoietin 1

protein:decreased expression:oral mucosa (human)

NCBI chr 4:29,925,203...30,233,434
Ensembl chr 4:29,933,135...30,233,960

G

angiopoietin 2

protein:increased expression:oral mucosa (human)

NCBI chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041

G

AT-rich interaction domain 2

disease_progression

NCBI chr 5:76,637,385...76,800,155
Ensembl chr 5:76,636,967...76,797,043

G

actin related protein 2/3 complex subunit 1B

severity

protein:increased expression:oral mucosa (human)

NCBI chr 3:6,329,737...6,342,641
Ensembl chr 3:6,220,939...6,342,637

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 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552

G

ATPase H+ transporting V1 subunit C1

NCBI chr 4:34,033,943...34,084,990
Ensembl chr 4:34,029,295...34,222,405

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 3:41,344,908...41,393,999
Ensembl chr 3:41,337,071...41,393,997

G

axin 2

susceptibility
disease_progression
ameliorates

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

PMID:21393552 PMID:33046030

RGD:150530486 RGD:151356656

NCBI chr12:12,311,293...12,343,207
Ensembl chr12:12,311,298...12,343,200

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 3:7,867,521...7,874,857

G

BarH like homeobox 2

protein:decreased expression:mouth mucosa

NCBI chr 4:126,030,373...126,035,662
Ensembl chr 4:126,029,437...126,036,210

G

BCL2 like 1

mRNA, protein:increased expression:mouth (human)

NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694

G

basic helix-loop-helix family member e41

treatment

Human cells in mouse model

NCBI chr 5:47,687,662...47,692,761
Ensembl chr 5:47,686,404...47,692,762

G

baculoviral IAP repeat containing 3

disease_progression
ameliorates

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

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

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

NCBI chr 9:33,003,570...33,020,252
Ensembl chr 9:33,002,734...33,020,242

G

baculoviral IAP repeat containing 5

protein:increased expression:oral cavity (human)

NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,279...3,755,215

G

BMP/retinoic acid inducible neural specific 2

DNA:amplication:oral epithelium

NCBI chr 9:118,967,670...119,095,345
Ensembl chr 9:118,975,719...119,095,336

G

bone marrow stromal cell antigen 2

disease_progression

NCBI chr 2:60,305,306...60,308,295
Ensembl chr 2:60,305,283...60,309,697

G

Bruton tyrosine kinase

treatment

mRNA:increased expression:oral epithelium (human)

NCBI chr X:82,981,512...83,014,475
Ensembl chr X:82,981,515...83,014,573

G

carbonic anhydrase 12

disease_progression

NCBI chr 1:108,649,277...108,710,658
Ensembl chr 1:108,649,271...108,710,651

G

calreticulin

exacerbates

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

PMID:23375593 PMID:28599487

RGD:150520158 RGD:150521688

NCBI chr 2:66,098,263...66,102,074
Ensembl chr 2:66,098,229...66,102,132

G

calcium/calmodulin dependent protein kinase II inhibitor 1

NCBI chr 6:78,730,204...78,734,232
Ensembl chr 6:78,730,206...78,733,740

G

chromobox 2

disease_progression

NCBI chr12:2,570,841...2,580,336
Ensembl chr12:2,570,851...2,580,337

G

chemokine (C-C motif) 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 chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026

G

C-C motif chemokine receptor 2

susceptibility

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

NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,369,122...29,376,343

G

cell division cycle 73

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

NCBI chr10:575,075...667,618
Ensembl chr10:575,075...667,432

G

cadherin 1

disease_progression

NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986

G

cyclin dependent kinase inhibitor 1A

no_association
disease_progression
susceptibility

DNA:polymorphism: :98C>A(human)
DNA:polymorphism:exon:149A>G(human)

PMID:10873097 PMID:15817070 PMID:18251939

RGD:8662371 RGD:8662374 RGD:8662395

NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761

G

ceramide synthase 1

exacerbates

NCBI chr 2:58,951,463...58,972,692
Ensembl chr 2:58,951,727...58,974,670

G

chromatin assembly factor 1 subunit B

disease_progression

protein:increased expression:mouth mucosa:

NCBI chr13:200,048,096...200,074,902
Ensembl chr13:200,048,149...200,072,556

G

CLPTM1 like

susceptibility

DNA:SNP: :rs402710(human)

NCBI chr16:79,237,000...79,248,503
Ensembl chr16:79,237,061...79,248,500

G

catenin delta 1

disease_progression

NCBI chr 2:13,143,604...13,209,251
Ensembl chr 2:13,154,338...13,209,250

G

cytochrome P450 family 1 subfamily A member 1

NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775

G

cytochrome P450 family 24 subfamily A member 1

susceptibility

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

NCBI chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363

G

cytochrome P450 family 2 subfamily E member 1

NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817

G

death domain associated protein

ameliorates

human cell line in a mouse model

NCBI chr 7:29,676,854...29,681,145
Ensembl chr 7:29,676,856...29,681,110

G

discoidin domain receptor tyrosine kinase 1

mRNA, protein:increased expression:mouth (human)

NCBI chr 7:23,371,358...23,391,585
Ensembl chr 7:23,373,777...23,391,585

G

discoidin domain receptor tyrosine kinase 2

severity

NCBI chr 4:87,749,738...87,911,818
Ensembl chr 4:87,756,168...87,911,296

G

DNA methyltransferase 3 beta

disease_progression

NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072

G

dedicator of cytokinesis 6

disease_progression

NCBI chr 2:69,925,853...69,972,326
Ensembl chr 2:69,925,854...69,972,316

G

ephrin B2

protein:increased expression:oral mucosa (human)

NCBI chr11:74,188,337...74,232,768
Ensembl chr11:74,186,640...74,233,354

G

epidermal growth factor receptor

NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589

G

erb-b2 receptor tyrosine kinase 2

NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351

G

erb-b2 receptor tyrosine kinase 4

disease_progression

NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,974,437...115,096,565

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

susceptibility

associated with oral mucosa leukoplakia
DNA:SNPs, haplotypes: :multiple

PMID:21697275 PMID:24122997 PMID:26807327

RGD:126779588 RGD:126779606 RGD:126781699

NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941

G

FAT atypical cadherin 1

onset

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

PMID:28435450 PMID:30624777

RGD:151347668 RGD:151347687

NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,457,187...8,580,715

G

fibroblast growth factor receptor 3

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

NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964

G

fibroblast growth factor receptor 4

severity

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

NCBI chr 2:80,841,536...80,853,791
Ensembl chr 2:80,841,536...80,853,796

G

fms related receptor tyrosine kinase 3

mRNA:decreased expression:oral epithelium (human)

NCBI chr11:5,370,475...5,455,439
Ensembl chr11:5,370,496...5,455,358

G

FOS like 2, AP-1 transcription factor subunit

mRNA, protein:increased expression:mouth (human)

NCBI chr 3:110,820,403...110,842,903
Ensembl chr 3:110,823,666...110,843,068

G

glyceraldehyde-3-phosphate dehydrogenase

NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991

G

glutathione peroxidase 1

exacerbates

protein:increased expression:oral cavity (human)

NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433

G

glutathione peroxidase 4

disease_progression

protein:increased expression:oral cavity (human)

NCBI chr 2:77,321,568...77,323,931
Ensembl chr 2:77,320,464...77,323,931

G

glycogen synthase kinase 3 beta

susceptibility

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

NCBI chr13:140,136,109...140,370,197
Ensembl chr13:140,136,158...140,369,569

G

H2A.X variant histone

disease_progression

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

NCBI chr 9:46,308,824...46,310,494
Ensembl chr 9:46,309,653...46,310,084

G

hes family bHLH transcription factor 1

protein:increased expression:tongue (mouse)

NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,725...131,138,237

G

haptoglobin

protein:increased expression:saliva

NCBI chr 6:14,980,382...14,985,245

G

interleukin 10

susceptibility

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

NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378

G

interleukin 13 receptor subunit alpha 2

NCBI chr X:94,402,665...94,455,609
Ensembl chr X:94,402,676...94,439,060

G

interleukin 2

NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609

G

interleukin 6

disease_progression

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

Jun proto-oncogene, AP-1 transcription factor subunit

mRNA, protein:increased expression:mouth (human)

NCBI chr 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636

G

JunB proto-oncogene, AP-1 transcription factor subunit

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

NCBI chr 2:66,214,086...66,219,435
Ensembl chr 2:66,214,138...66,217,002

G

lysine methyltransferase 2D

severity

NCBI chr 5:15,049,827...15,091,622

G

baculoviral IAP repeat-containing protein 2

protein:increased expression:oral cavity (human)

NCBI chr 9:33,041,592...33,062,865
Ensembl chr 9:33,041,663...33,062,854

G

glutathione S-transferase P-like

mRNA,protein:decreased expression:mucosa:

NCBI chr 2:5,005,498...5,009,247

G

interleukin-1 beta-like

disease_progression

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

G

microcephalin 1

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

NCBI chr15:37,455,186...37,674,971
Ensembl chr15:37,455,551...37,673,633

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression, altered expression:mouth mucosa:

NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512

G

microRNA mir-155

disease_progression

PMID:28413645 PMID:29909906 PMID:30194167

RGD:21079420 RGD:21079468 RGD:24922225

NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902

G

microRNA mir-187

RNA:increased expression:plasma

NCBI chr 6:119,674,881...119,674,958

G

microRNA mir-20a

NCBI chr11:60,735,109...60,735,179
Ensembl chr11:60,735,099...60,735,196

G

microRNA mir-221

exacerbates

NCBI chr X:40,571,068...40,571,137
Ensembl chr X:40,571,068...40,571,137

G

microRNA mir-222

disease_progression
exacerbates

PMID:21226887 PMID:31841247

RGD:151708741 RGD:151708999

NCBI chr X:40,571,808...40,571,887
Ensembl chr X:40,571,808...40,571,887

G

microRNA mir-31

treatment

NCBI chr 1:201,198,732...201,198,809
Ensembl chr 1:201,198,732...201,198,809

G

methylenetetrahydrofolate reductase

susceptibility

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

NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820

G

NLR family apoptosis inhibitory protein

protein:increased expression:oral cavity (human)

NCBI chr16:47,700,869...47,710,036

G

notch receptor 1

protein:increased expression:tongue (mouse)

G

platelet and endothelial cell adhesion molecule 1

protein:decreased expression:oral mucosa (human)

NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293

G

plasminogen activator, urokinase

severity

protein:increased expression:oral mucosa (rat)

NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172

G

phospholipase C gamma 1

disease_progression
ameliorates

protein:decreased expression:oral cavity (human)

PMID:25085076 PMID:26464646

RGD:11526681 RGD:151356936

NCBI chr17:43,810,003...43,844,553
Ensembl chr17:43,810,048...43,844,554

G

peroxiredoxin 2

protein:increased expression:saliva

NCBI chr 2:66,207,829...66,211,474
Ensembl chr 2:66,207,828...66,212,009

G

phosphatase and tensin homolog

disease_progression

protein:increased expression:oral epithelium (human)

NCBI chr14:99,929,590...100,021,619

G

prostaglandin I2 synthase

mRNA,protein:decreased expression:mouth mucosa (human)

NCBI chr17:51,153,151...51,200,515
Ensembl chr17:51,153,154...51,200,300

G

protein tyrosine phosphatase non-receptor type 13

treatment

NCBI chr 8:132,035,170...132,200,425
Ensembl chr 8:132,035,151...132,249,411

G

RAD21 cohesin complex component

exacerbates

mRNA:decreased expression:oral cavity (human)

NCBI chr 4:21,772,821...21,802,453
Ensembl chr 4:21,772,855...21,802,715

G

RELA proto-oncogene, NF-kB subunit

protein:increased expression:mouth (human)

NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469

G

serpin family E member 1

disease_progression
severity

protein:increased expression:oral mucosa (rat)

PMID:15878520 PMID:24999729

RGD:13208508 RGD:8547730

NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547

G

S-phase kinase associated protein 2

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

NCBI chr16:21,463,270...21,500,925
Ensembl chr16:21,463,012...21,509,310

G

solute carrier family 7 member 5

severity

NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285

G

SRY-box transcription factor 2

protein:increased expression:oral epithelium

NCBI chr13:119,668,476...119,669,435
Ensembl chr13:119,668,476...119,669,435

G

telomerase reverse transcriptase

susceptibility

DNA:SNPs: :rs2736100,rs2736098(human)

NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421

G

tet methylcytosine dioxygenase 2

protein:decreased expression:oral epithelium (human)

NCBI chr 8:116,413,253...116,546,976
Ensembl chr 8:116,415,267...116,545,299

G

tumor necrosis factor

disease_progression

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

NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415

G

tumor protein p53

DNA:missense mutations: :multiple
protein:increased expression:mouth (human)

PMID:27283772 PMID:34111459

RGD:14995497 RGD:153344573

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

transthyretin

protein:increased expression:saliva (human)

NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,326...115,503,977

G

vascular endothelial growth factor A

protein:increased expression:oral mucosa (human)

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

G

Wnt family member 11

susceptibility

DNA:SNP:exon: A>G (rs1533767) (human)

NCBI chr 9:10,413,182...10,435,158
Ensembl chr 9:10,413,263...10,435,100

Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

R-spondin 1

ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | ClinVar Annotator: match by term: RSPO1-related condition

PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532

NCBI chr 6:93,664,839...93,690,328
Ensembl chr 6:93,665,121...93,685,197

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 chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341

papillary carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KISS1 receptor

NCBI chr 2:77,472,361...77,479,204
Ensembl chr 2:77,472,362...77,479,204

G

vascular endothelial growth factor C

disease_progression

associated with thyroid diseases;mRNA:increased expression:thyroid gland:

NCBI chr15:39,037,764...39,136,234
Ensembl chr15:39,039,311...39,132,936

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 9:33,003,570...33,020,252
Ensembl chr 9:33,002,734...33,020,242

G

baculoviral IAP repeat containing 5

disease_progression

mRNA:increased expression:kidney (human)

NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,279...3,755,215

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 chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553

G

HRas proto-oncogene, GTPase

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

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

NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501

G

leucine rich repeat containing 56

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

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

NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699

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 chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512

G

proline rich mitotic checkpoint control factor

NCBI chr 4:93,297,859...93,325,499
Ensembl chr 4:93,297,500...93,325,177

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 chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654

G

X-linked inhibitor of apoptosis

exacerbates

mRNA:increased expression:kidney (human)

NCBI chr X:101,399,374...101,440,021
Ensembl chr X:101,399,812...101,440,013

papilloma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism

PMID:10430900 PMID:11684723 PMID:12151359

RGD:8662351 RGD:8662432

NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761

G

epidermal growth factor receptor

susceptibility

CTD Direct Evidence: marker/mechanism

PMID:8603490 PMID:10943841

NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589

G

erb-b2 receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501

G

mitogen-activated protein kinase kinase 4

NCBI chr12:56,402,029...56,516,217
Ensembl chr12:56,402,075...56,516,238

G

matrix metallopeptidase 2

treatment

associated with Skin Neoplasms

NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982

G

NAD(P)H quinone dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590

G

ornithine decarboxylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:126,087,013...126,095,644
Ensembl chr 3:126,087,242...126,096,051

G

phospholipase A2 group IVA

associated with Bladder Neoplasms;mRNA:increased expression:bladder

NCBI chr 9:127,853,581...128,164,825
Ensembl chr 9:127,859,051...128,162,638

G

prostaglandin E synthase

mRNA:increased expression:urinary bladder

NCBI chr 1:269,911,785...269,924,481
Ensembl chr 1:269,911,789...269,924,462

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:12151359 PMID:16144915

NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560

G

transforming growth factor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 3:71,948,232...72,054,257
Ensembl chr 3:71,948,137...72,050,474

G

transforming growth factor beta 1

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:7954410 PMID:20172950

NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046

G

tyrosinase

treatment

NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290

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 1:16,274,955...16,320,980
Ensembl chr 1:16,274,970...16,320,604

G

large tumor suppressor kinase 2

ClinVar Annotator: match by term: Malignant peritoneal mesothelioma

NCBI chr11:1,225,523...1,265,970
Ensembl chr11:1,225,527...1,265,946

G

MDS1 and EVI1 complex locus

ClinVar Annotator: match by term: Malignant peritoneal mesothelioma

NCBI chr13:107,753,207...108,336,136
Ensembl chr13:107,754,482...108,335,702

G

TNF receptor associated factor 7

DNA:missense mutations:multiple

NCBI chr 3:39,811,803...39,828,450
Ensembl chr 3:39,810,606...39,828,395

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 chr16:79,237,000...79,248,503
Ensembl chr16:79,237,061...79,248,500

sarcomatoid mesothelioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 2A

DNA:deletion

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

seborrheic keratosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

annexin A1

NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,306...226,432,279

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 8:879,151...894,968
Ensembl chr 8:879,159...894,964

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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587

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 chr15:129,172,743...129,176,069

G

clusterin

NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764

G

fibroblast growth factor 10

protein:increased expression:skin (mouse)

NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,470...28,777,509

G

microRNA mir-21

ameliorates

NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358

G

neuregulin 1

DNA:hypermethylation:

NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,630,679...52,839,505

G

toll like receptor 2

protein:increased expression,altered expression:cytoplasm,membrane, nucleus:

NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330

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 6:28,188,002...28,261,009
Ensembl chr 6:28,195,647...28,261,009

G

DEAD-box helicase 5

protein:increased expression:foreskin (human)

NCBI chr12:14,571,712...14,580,740
Ensembl chr12:14,571,951...14,580,742

G

FAT atypical cadherin 1

disease_progression

associated with Neoplasm Metastasis

NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,457,187...8,580,715

G

fibroblast growth factor 10

protein:increased expression:skin (mouse)

NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,470...28,777,509

G

FYN proto-oncogene, Src family tyrosine kinase

NCBI chr 1:77,584,675...77,810,605
Ensembl chr 1:77,585,439...77,810,581

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 chr 1:130,916,956...130,930,172
Ensembl chr 1:130,916,146...130,930,078

G

phosphatase and tensin homolog

ameliorates

NCBI chr14:99,929,590...100,021,619

Sporadic Papillary Renal Cell Carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MYC proto-oncogene, bHLH transcription factor

severity

mRNA:increased expression:renal cortex (human)
protein:increased expression:kidney (human)

PMID:17409424 PMID:19384955

RGD:7240562 RGD:7240563

NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078

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 chr16:65,715,445...65,814,761
Ensembl chr16:65,715,517...65,814,758

G

ADAMTS like 3

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 7:51,006,356...51,363,855
Ensembl chr 7:51,006,366...51,363,620

G

actin filament associated protein 1 like 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:124,630,797...124,737,350
Ensembl chr14:124,630,799...124,672,813

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Squamous cell carcinoma

G

annexin A1

CTD Direct Evidence: marker/mechanism

PMID:8919037 PMID:15274141

NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,306...226,432,279

G

annexin A2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:111,588,721...111,635,064
Ensembl chr 1:111,588,306...111,635,059

G

annexin A5

CTD Direct Evidence: marker/mechanism

NCBI chr 8:102,387,833...102,420,868
Ensembl chr 8:102,388,103...102,425,750

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887

G

apolipoprotein B mRNA editing enzyme catalytic subunit 3B

CTD Direct Evidence: marker/mechanism

NCBI chr 5:9,098,676...9,115,965
Ensembl chr 5:9,097,719...9,116,369

G

aquaporin 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:33,045,374...33,050,285
Ensembl chr10:33,045,245...33,051,082

G

amphiregulin

CTD Direct Evidence: therapeutic

NCBI chr 8:70,417,935...70,428,106
Ensembl chr 8:70,417,923...70,428,102

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552

G

BCL2 apoptosis regulator

disease_progression

Protein:increased expression:tongue;associated with mouth neoplasms

NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879

G

baculoviral IAP repeat containing 5

CTD Direct Evidence: marker/mechanism

NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,279...3,755,215

G

caveolin 1

NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465

G

chemokine (C-C motif) ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026

G

cyclin D1

susceptibility

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

PMID:18548202 PMID:26432044

NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296

G

CD163 molecule

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498

G

cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986

G

cyclin dependent kinase inhibitor 1A

disease_progression

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

PMID:9655223 PMID:11028856

RGD:8662356 RGD:8662856

NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761

G

cyclin dependent kinase inhibitor 2A

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

PMID:15057871 PMID:25125259

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

cyclin dependent kinase inhibitor 2B

protein:decreased expression:skin

NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056

G

CCAAT enhancer binding protein alpha

CTD Direct Evidence: marker/mechanism

PMID:17510391 PMID:21346772

NCBI chr 6:43,083,200...43,085,884
Ensembl chr 6:43,083,207...43,085,836

G

complement factor H

mRNA:increased expression:skin

G

cholinergic receptor nicotinic alpha 3 subunit

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 7:47,361,710...47,382,743
Ensembl chr 7:47,361,899...47,384,303

G

cholinergic receptor nicotinic alpha 5 subunit

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 7:47,382,860...47,425,871
Ensembl chr 7:47,383,792...47,425,841

G

claudin 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:127,714,857...127,730,628
Ensembl chr13:127,712,777...127,730,657

G

clusterin

severity

NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764

G

CREB binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224

G

crystallin alpha B

CTD Direct Evidence: marker/mechanism

NCBI chr 9:39,638,505...39,643,530
Ensembl chr 9:39,638,506...39,643,530

G

casein kinase 2 alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:34,692,960...34,748,067

G

casein kinase 2 alpha 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:19,975,030...20,016,768
Ensembl chr 6:19,976,930...20,016,923

G

casein kinase 2 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,781,194...23,787,914
Ensembl chr 7:23,780,210...23,792,502
Ensembl chr 7:23,780,210...23,792,502

G

cytotoxic T-lymphocyte associated protein 4

susceptibility

DNA:SNP: :rs3087243(human)

NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103

G

cortactin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:3,031,103...3,060,796
Ensembl chr 2:3,031,103...3,060,813

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861

G

cytochrome P450 family 1 subfamily A member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100

G

cytochrome P450 family 1 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683

G

dentin sialophosphoprotein

CTD Direct Evidence: marker/mechanism

NCBI chr 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761

G

dual specificity phosphatase 1

mRNA:increased expression:saliva

NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589

G

early growth response 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296

G

enolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:69,385,879...69,401,664
Ensembl chr 6:69,385,879...69,401,151

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760

G

ERCC excision repair 2, TFIIH core complex helicase subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553

G

ERCC excision repair 6, chromatin remodeling factor

severity

associated with Cockayne Syndrome

NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898

G

family with sequence similarity 13 member A

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 8:130,021,581...130,327,731
Ensembl chr 8:130,021,643...130,327,729

G

Fas cell surface death receptor

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

NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716

G

fibroblast growth factor 7

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

NCBI chr 1:122,215,878...122,278,705
Ensembl chr 1:122,215,882...122,277,750

G

fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism

PMID:22286583 PMID:27794399

NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724

G

fibroblast growth factor receptor 2

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

NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425

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 chr13:41,443,963...42,884,799
Ensembl chr13:41,443,965...42,392,817

G

fms related receptor tyrosine kinase 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264

G

forkhead box A1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:62,471,233...62,479,638
Ensembl chr 7:62,471,249...62,479,220

G

forkhead box P2

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr18:31,335,102...31,890,523
Ensembl chr18:31,335,264...31,888,845

G

glyceraldehyde-3-phosphate dehydrogenase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991

G

glutathione peroxidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433

G

hydroxycarboxylic acid receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:30,117,014...30,119,293

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,411

G

histone deacetylase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585

G

hepatocyte growth factor

CTD Direct Evidence: therapeutic

NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564

G

HRas proto-oncogene, GTPase

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

PMID:8453633 PMID:24224046 PMID:25125259

NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501

G

heat shock protein family A (Hsp70) member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 9:49,982,278...49,986,760
Ensembl chr 9:49,982,284...49,990,508

G

heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704

G

5-hydroxytryptamine receptor 4

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 2:149,768,295...149,813,801
Ensembl chr 2:149,731,034...149,912,495

G

interleukin 2

treatment

NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

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 chr11:77,270,272...77,278,346
Ensembl chr11:77,270,320...77,277,068

G

inositol polyphosphate-5-phosphatase A

CTD Direct Evidence: marker/mechanism

NCBI chr14:140,736,729...140,895,943
Ensembl chr14:140,736,734...140,895,937

G

interleukin 1 receptor associated kinase 1

disease_progression

NCBI chr X:124,717,604...124,724,855
Ensembl chr X:124,717,612...124,724,860

G

integrin subunit alpha 5

CTD Direct Evidence: marker/mechanism

NCBI chr 5:19,587,361...19,610,580
Ensembl chr 5:19,586,746...19,610,362

G

integrin subunit beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:56,078,393...56,130,608
Ensembl chr10:56,078,396...56,173,326

G

involucrin

CTD Direct Evidence: marker/mechanism

NCBI chr 4:96,656,033...96,658,737
Ensembl chr 4:96,656,033...96,658,737

G

kinase insert domain receptor

NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336

G

KIT ligand

Squamous cell carcinoma of the digit

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

NCBI chr 5:94,016,992...94,110,219
Ensembl chr 5:94,017,387...94,110,214

G

KLF transcription factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr11:45,370,009...45,386,673
Ensembl chr11:45,369,810...45,388,314

G

lysine methyltransferase 2C

severity

DNA:mutations:multiple (human)

NCBI chr18:4,993,213...5,279,668
Ensembl chr18:4,993,227...5,278,723

G

kinetochore localized astrin (SPAG5) binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 1:130,916,956...130,930,172
Ensembl chr 1:130,916,146...130,930,078

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

PMID:19435901 PMID:25125259

NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

keratin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582

G

keratin 10

CTD Direct Evidence: marker/mechanism

NCBI chr12:21,641,263...21,645,642
Ensembl chr12:21,641,271...21,646,377

G

galectin 7

CTD Direct Evidence: marker/mechanism

NCBI chr 6:47,588,983...47,604,520

G

leucine rich repeat containing G protein-coupled receptor 6

CTD Direct Evidence: marker/mechanism

NCBI chr10:24,358,946...24,454,430
Ensembl chr10:24,359,774...24,454,428

G

glutathione S-transferase P-like

NCBI chr 2:5,005,498...5,009,247

G

keratin, type I cytoskeletal 14

CTD Direct Evidence: marker/mechanism

NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,074,850...21,079,391

G

caspase-15

CTD Direct Evidence: marker/mechanism

NCBI chr13:24,046,127...24,068,431

G

loricrin cornified envelope precursor protein

CTD Direct Evidence: marker/mechanism

NCBI chr 4:96,303,835...96,308,016
Ensembl chr 4:96,304,070...96,305,110

G

leukotriene A4 hydrolase

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

NCBI chr 5:87,486,552...87,518,520
Ensembl chr 5:87,486,512...87,518,515

G

leucine zipper tumor suppressor 1

esophageal squamous cell carcinoma, OMIM:133239

NCBI chr14:4,344,496...4,404,208
Ensembl chr14:4,346,480...4,404,168

G

mal, T cell differentiation protein

CTD Direct Evidence: marker/mechanism

NCBI chr 3:46,223,610...46,242,306
Ensembl chr 3:46,181,555...46,242,047

G

mesencephalic astrocyte derived neurotrophic factor

susceptibility

NCBI chr13:33,658,279...33,662,218
Ensembl chr13:33,658,255...33,662,261

G

mitogen-activated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513

G

mitogen-activated protein kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512

G

microRNA mir-205

CTD Direct Evidence: marker/mechanism

NCBI chr 9:133,517,078...133,517,146
Ensembl chr 9:133,517,078...133,517,146

G

mutL homolog 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757

G

matrix metallopeptidase 2

protein:increased expression:nasal mucosa

NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982

G

matrix metallopeptidase 9

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

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

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

NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788

G

mitochondrial ribosomal protein L13

CTD Direct Evidence: marker/mechanism

NCBI chr 4:18,608,919...18,671,523
Ensembl chr 4:18,608,883...18,671,517

G

membrane spanning 4-domains A1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:11,216,238...11,229,060
Ensembl chr 2:11,215,901...11,222,914

G

metallothionein 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:18,672,016...18,673,673
Ensembl chr 6:18,672,001...18,673,672

G

methylenetetrahydrofolate reductase

susceptibility

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

NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820

G

mucin 5AC, oligomeric mucus/gel-forming

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 2:757,897...790,321

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078

G

nuclear receptor coactivator 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:49,528,275...49,660,471
Ensembl chr17:49,528,179...49,663,200

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183

G

NK2 homeobox 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 7:63,487,200...63,491,580
Ensembl chr 7:63,487,807...63,491,575

G

NLR family pyrin domain containing 3

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228

G

NME/NM23 nucleoside diphosphate kinase 1

severity

protein:decreased expression:tumor (human)

NCBI chr12:27,416,308...27,435,044
Ensembl chr12:27,416,346...27,436,140

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344

G

notch receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281

G

OCA2 melanosomal transmembrane protein

susceptibility

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

NCBI chr15:56,657,648...56,869,920
Ensembl chr15:56,657,616...56,869,918

G

8-oxoguanine DNA glycosylase

NCBI chr13:66,038,669...66,045,478

G

phosphoglycerate mutase 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:108,822,782...108,832,818
Ensembl chr14:108,822,812...108,833,058

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587

G

plasminogen activator, urokinase

severity

mRNA:increased expression:oral cavity (human)

NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172

G

peptidylprolyl isomerase A

CTD Direct Evidence: marker/mechanism

NCBI chr18:50,563,130...50,566,857

G

protein kinase, DNA-activated, catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 4:79,687,375...79,850,146
Ensembl chr 4:79,687,375...79,846,656

G

phosphoribosyl transferase domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:50,365,654...50,458,487
Ensembl chr10:50,365,587...50,461,324

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr14:99,929,590...100,021,619

G

prostaglandin E receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:64,796,944...64,800,199
Ensembl chr 2:64,797,216...64,800,458

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:16543248 PMID:18202791

NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884

G

protein tyrosine kinase 2

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:21401805 PMID:25199511

NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,614...2,896,054

G

protein tyrosine phosphatase non-receptor type 11

CTD Direct Evidence: marker/mechanism

NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003

G

PYD and CARD domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr 3:17,305,921...17,307,521
Ensembl chr 3:17,306,099...17,307,786

G

receptor for activated C kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:57,280,192...57,284,846
Ensembl chr 2:57,279,857...57,284,849

G

RAD52 homolog, DNA repair protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:68,140,846...68,223,587
Ensembl chr 5:68,143,646...68,169,670

G

retinoic acid receptor beta

CTD Direct Evidence: marker/mechanism

NCBI chr13:12,336,387...12,507,688
Ensembl chr13:12,336,972...12,507,680

G

RAS p21 protein activator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,450

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690

G

Ras and Rab interactor 3

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 7:114,035,137...114,166,548
Ensembl chr 7:114,035,353...114,166,539

G

receptor interacting serine/threonine kinase 1

NCBI chr 7:1,841,143...1,880,705
Ensembl chr 7:1,841,239...1,880,699

G

ring finger protein 168

CTD Direct Evidence: marker/mechanism

NCBI chr13:133,625,534...133,659,253

G

ring finger protein 6

NCBI chr11:4,020,752...4,033,040
Ensembl chr11:4,020,852...4,031,787

G

ROS proto-oncogene 1, receptor tyrosine kinase

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 1:44,409,877...44,535,784
Ensembl chr 1:44,410,351...44,534,874

G

retinoid isomerohydrolase RPE65

mRNA:decreased expression:skin (human)

NCBI chr 6:144,206,078...144,229,471
Ensembl chr 6:144,206,078...144,229,467

G

SEM1 26S proteasome subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 9:76,324,550...76,349,261

G

serpin family A member 1

ClinVar Annotator: match by term: Squamous cell carcinoma

PMID:27296815 PMID:27993330 PMID:36367950

NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,583,043...115,614,645

G

stratifin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:84,188,521...84,189,824
Ensembl chr 6:84,188,445...84,189,827

G

sirtuin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:38,465...55,074
Ensembl chr 2:38,464...55,101

G

solute carrier family 45 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:19,958,315...20,002,198
Ensembl chr16:19,956,366...20,023,289

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:12543247 PMID:15274141

NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560

G

SRY-box transcription factor 2

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

PMID:19801978 PMID:23518916

NCBI chr13:119,668,476...119,669,435
Ensembl chr13:119,668,476...119,669,435

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 chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327

G

telomeric repeat binding factor 1

NCBI chr 4:62,797,244...62,831,459
Ensembl chr 4:62,797,000...62,831,454

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 8:116,413,253...116,546,976
Ensembl chr 8:116,415,267...116,545,299

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046

G

TIAM Rac1 associated GEF 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:194,774,495...195,235,750
Ensembl chr13:194,774,497...195,005,089

G

toll like receptor 4

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970

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 chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673

G

TNF receptor superfamily member 1A

NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909

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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

tumor protein p63

CTD Direct Evidence: marker/mechanism

NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068

G

triosephosphate isomerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:63,839,473...63,842,853
Ensembl chr 5:63,838,506...63,843,134

G

TSC complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951

G

TSC complex subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,642,381...105,660,578

G

ubiquitin like modifier activating enzyme 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:41,810,726...41,832,818
Ensembl chr X:41,814,101...41,832,812

G

ubiquitin like modifier activating enzyme 7

CTD Direct Evidence: marker/mechanism

NCBI chr13:32,330,536...32,341,300
Ensembl chr13:32,332,367...32,341,217

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr13:135,611,857...135,650,656
Ensembl chr13:135,610,058...135,650,603

G

voltage dependent anion channel 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:77,767,165...77,782,327
Ensembl chr14:77,766,686...77,782,321

G

vitamin D receptor

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

PMID:16950800 PMID:22213323

RGD:8158063 RGD:8158080

NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

PMID:15956251 PMID:26432044

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

G

WW domain containing oxidoreductase

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

PMID:11956080 PMID:17575124

NCBI chr 6:8,910,209...9,871,048
Ensembl chr 6:8,910,138...9,871,053

G

XPC complex subunit, DNA damage recognition and repair factor

CTD Direct Evidence: marker/mechanism

NCBI chr13:70,348,841...70,397,194
Ensembl chr13:70,348,864...70,397,772

G

X-ray repair cross complementing 5

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

NCBI chr15:118,354,943...118,451,974
Ensembl chr15:118,354,796...118,451,960

G

X-ray repair cross complementing 6

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

NCBI chr 5:6,903,496...6,929,162
Ensembl chr 5:6,903,495...6,929,052

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 chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245

G

adiponectin, C1Q and collagen domain containing

disease_progression

protein:decreased expression:serum

NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646

G

BCL2 apoptosis regulator

protein:increased expression:tongue (human)

NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879

G

BMP/retinoic acid inducible neural specific 3

mRNA:decreased expression:tongue:

NCBI chr10:2,963,237...3,367,629
Ensembl chr10:2,963,527...3,367,623

G

caveolin 2

protein:increased expression:mucosa of tongue

NCBI chr18:29,699,012...29,707,277
Ensembl chr18:29,699,020...29,707,277

G

cyclin D1

protein:increased expression:tongue (human)

NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296

G

cyclin dependent kinase inhibitor 1A

disease_progression

NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761

G

C-X-C motif chemokine ligand 8

mRNA:increased expression:head, neck (human)

NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861

G

epidermal growth factor receptor

treatment

NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589

G

erb-b2 receptor tyrosine kinase 3

disease_progression

NCBI chr 5:21,474,218...21,495,040
Ensembl chr 5:21,474,475...21,495,038

G

erb-b2 receptor tyrosine kinase 4

severity

NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,974,437...115,096,565

G

FA complementation group B

NCBI chr X:11,386,360...11,408,958
Ensembl chr X:11,384,912...11,409,057

G

FA complementation group C

NCBI chr10:26,796,546...27,055,271
Ensembl chr10:26,796,572...27,061,801

G

FA complementation group F

mRNA:decreased expression:tongue:

NCBI chr 2:36,884,701...36,886,661
Ensembl chr 2:36,884,777...36,885,856

G

FA complementation group G

NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,075...235,877,974

G

FA complementation group I

NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998

G

FA complementation group L

NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,253...83,436,942

G

FA complementation group M

NCBI chr 1:175,333,965...175,402,065
Ensembl chr 1:175,334,141...175,400,685

G

Fos proto-oncogene, AP-1 transcription factor subunit

mRNA,protein:increased expression:tongue (human)

NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554

G

FosB proto-oncogene, AP-1 transcription factor subunit

protein:increased expression:tongue (human)

NCBI chr 6:51,836,780...51,844,531
Ensembl chr 6:51,837,719...51,844,529

G

FOS like 1, AP-1 transcription factor subunit

protein:decreased expression:tongue (human)

NCBI chr 2:6,430,158...6,436,173
Ensembl chr 2:6,430,153...6,436,173

G

FOS like 2, AP-1 transcription factor subunit

mRNA,protein:increased expression:tongue (human)

NCBI chr 3:110,820,403...110,842,903
Ensembl chr 3:110,823,666...110,843,068

G

far upstream element binding protein 1

exacerbates

mRNA, protein:increased expression:tongue (human)

NCBI chr 6:135,281,474...135,319,055
Ensembl chr 6:135,281,521...135,318,714

G

gap junction protein alpha 1

protein:decreased expression:epithelium

NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156

G

hepatocyte growth factor

protein:increased expression:tongue:

NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564

G

interferon gamma

disease_progression

protein:decreased expression:serum:

NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670

G

interleukin 10

disease_progression

protein:increased expression:serum:

NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378

G

interleukin 1 receptor like 1

disease_progression

NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383

G

interleukin 2

protein:decreased expression:serum:

NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609

G

interleukin 33

disease_progression

NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840

G

Janus kinase 3

disease_progression

NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495

G

Jun proto-oncogene, AP-1 transcription factor subunit

mRNA,protein:increased expression:tongue (human)

NCBI chr 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636

G

JunB proto-oncogene, AP-1 transcription factor subunit

protein:increased expression:tongue (human)

NCBI chr 2:66,214,086...66,219,435
Ensembl chr 2:66,214,138...66,217,002

G

JunD proto-oncogene, AP-1 transcription factor subunit

protein:increased expression:tongue (human)

NCBI chr 2:59,530,991...59,532,846

G

kinase insert domain receptor

treatment

NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336

G

baculoviral IAP repeat-containing protein 2

exacerbates

protein:increased expression:tongue (human)

NCBI chr 9:33,041,592...33,062,865
Ensembl chr 9:33,041,663...33,062,854

G

mitogen-activated protein kinase kinase 4

mRNA:increased expression:tongue squamous epithelium (human)

NCBI chr12:56,402,029...56,516,217
Ensembl chr12:56,402,075...56,516,238

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression:tongue:

NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512

G

matrix metallopeptidase 9

protein:increased expression:tongue (human)

NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788

G

microtubule associated scaffold protein 1

disease_progression

NCBI chr17:5,331,668...5,507,212
Ensembl chr17:5,329,750...5,507,119

G

solute carrier family 1 member 5

disease_progression

NCBI chr 6:52,647,432...52,661,464
Ensembl chr 6:52,647,438...52,661,459

G

solute carrier family 3 member 2

disease_progression

NCBI chr 2:8,892,071...8,919,070
Ensembl chr 2:8,892,089...8,919,072

G

solute carrier family 7 member 11

severity

NCBI chr 8:88,608,083...88,690,589
Ensembl chr 8:88,608,174...88,687,250

G

solute carrier family 7 member 5

disease_progression

NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285

G

SRY-box transcription factor 2

disease_progression

NCBI chr13:119,668,476...119,669,435
Ensembl chr13:119,668,476...119,669,435

G

tumor protein p53

protein:increased expression:tongue:

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

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 8:879,151...894,968
Ensembl chr 8:879,159...894,964

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

G

cell division cycle 25B

disease_progression

protein:increased expression:vulva

NCBI chr17:31,910,824...31,929,418
Ensembl chr17:31,910,825...31,929,242

G

cell division cycle 25C

disease_progression

protein:increased expression:vulva

NCBI chr 2:140,289,156...140,323,696
Ensembl chr 2:140,289,115...140,324,425

G

stratifin

DNA, mRNA:hypermethylation, decreased expression:vulva

NCBI chr 6:84,188,521...84,189,824
Ensembl chr 6:84,188,445...84,189,827

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 chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232

Term paths to the root

Path 1
Term	Annotations
disease	15437
disease of cellular proliferation	7377
benign neoplasm	2118
cell type benign neoplasm	1864
squamous cell neoplasm	650
acanthoma +	4
papillary carcinoma +	12
papilloma +	65
squamous cell carcinoma +	612
verrucous carcinoma +	0

paths to the root