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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Genes (633)

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 chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213

G

checkpoint kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:11,567,529...11,621,180
Ensembl chr19:11,567,528...11,604,792

G

serine/threonine kinase receptor associated protein

NCBI chr11:15,790,449...15,812,964
Ensembl chr11:15,790,798...15,813,585

G

tumor protein p63

CTD Direct Evidence: marker/mechanism

NCBI chr15:83,861,489...84,126,675

adenoid squamous cell carcinoma

term browser

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

HNF1 homeobox A

NCBI chr11:116,334,935...116,358,582
Ensembl chr11:116,335,675...116,357,751

adenosquamous gallbladder carcinoma

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Object Name

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Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

discoidin domain receptor tyrosine kinase 2

disease_progression

NCBI chr20:1,298,636...1,451,872
Ensembl chr20:1,299,574...1,359,674

G

interferon-induced transmembrane protein 1

disease_progression

NCBI chr 1:128,309...129,543

adenosquamous lung carcinoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transthyretin

protein:increased expression:lung (human)

NCBI chr18:49,124,302...49,131,495
Ensembl chr18:49,124,121...49,131,399

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 chr10:113,815,099...113,836,562
Ensembl chr10:113,832,573...113,835,736

G

CD8 subunit alpha

mRNA:decreased expression:zone of skin (human)

NCBI chr14:18,878,013...18,885,183
Ensembl chr14:18,878,622...18,883,885

G

cytotoxic T-lymphocyte associated protein 4

mRNA,protein:increased expression:multiple (human)

NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344

G

forkhead box P3

mRNA,protein:increased expression:multiple (human)

NCBI chr X:46,349,890...46,365,133

G

interleukin 10

mRNA,protein:increased expression:multiple (human)

NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836

G

interleukin 12B

treatment

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

PMID:16114559 PMID:23754510

RGD:40400714 RGD:7829774

NCBI chr23:61,714,293...61,731,835

G

interleukin 2

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

NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969

G

interleukin 21

protein:decreased expression:blood serum (human)

NCBI chr 7:69,859,793...69,872,237
Ensembl chr 7:69,863,535...69,872,025

G

interleukin 4

treatment

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

PMID:16114559 PMID:23754510

RGD:40400714 RGD:7829774

NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258

G

interleukin 6

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

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

G

mitogen-activated protein kinase 8

treatment

mRNA:increased expression:zone of skin (human)

NCBI chr 9:43,356,603...43,489,066
Ensembl chr 9:43,356,308...43,393,425

G

MYD88 innate immune signal transduction adaptor

mRNA,protein:increased expression:multiple (human)

NCBI chr15:1,276,804...1,281,811
Ensembl chr15:1,276,798...1,281,166

G

natural cytotoxicity triggering receptor 1

mRNA,protein:decreased expression:multiple (human)

NCBI chr 6:47,521,488...47,527,713
Ensembl chr 6:47,521,956...47,530,961

G

programmed cell death 1

mRNA,protein:increased expression:multiple (human)

NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088

G

protein tyrosine phosphatase non-receptor type 11

protein:increased expression:foreskin

NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637

G

protein tyrosine phosphatase non-receptor type 6

protein:increased expression:foreskin

NCBI chr11:6,977,480...6,994,525
Ensembl chr11:6,984,710...6,994,545

G

serpin family F member 1

disease_progression

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

NCBI chr16:1,408,453...1,424,197

G

transforming growth factor beta 1

mRNA,protein:increased expression:multiple (human)

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

G

toll like receptor 2

mRNA,protein:increased expression:multiple (human)

NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795

G

toll like receptor 3

mRNA,protein:increased expression:multiple (human)

NCBI chr 7:131,991,068...132,014,366
Ensembl chr 7:131,991,029...132,016,232

G

toll like receptor 4

mRNA,protein:increased expression:multiple (human)

NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515

G

toll like receptor 7

mRNA,protein:increased expression:multiple (human)

NCBI chr X:11,348,520...11,372,132

G

toll like receptor 8

mRNA,protein:increased expression:multiple (human)

NCBI chr X:11,387,933...11,405,056
Ensembl chr X:11,400,907...11,404,029

G

tumor necrosis factor

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

G

TNF receptor superfamily member 18

mRNA,protein:increased expression:multiple (human)

NCBI chr20:130,237,950...130,243,303
Ensembl chr20:130,225,847...130,242,251

basaloid squamous cell carcinoma

term browser

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Object Name

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein patched homolog 1

DNA:missense mutations, nonsense mutations

NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985

bladder squamous cell carcinoma

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G

phosphatase and tensin homolog

disease_progression

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

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

Bowen's Disease

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G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357

G

cyclin E1

associated with Vulvar Neoplasms;mRNA:increased expression:vulva

NCBI chr 6:24,879,923...24,888,985

G

cyclin dependent kinase inhibitor 1A

protein:increased expression:skin:

NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342

G

nuclear respiratory factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:98,227,088...98,377,095
Ensembl chr21:98,268,395...98,377,096

G

PPARG coactivator 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr27:25,882,385...26,563,530
Ensembl chr27:26,465,499...26,564,582

G

transcription factor A, mitochondrial

CTD Direct Evidence: marker/mechanism

NCBI chr 9:72,900,665...72,914,634
Ensembl chr 9:72,904,637...72,914,397

bowenoid papulosis

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PubMed Reference(s)

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G

baculoviral IAP repeat containing 2

mRNA:increased expression:perianal skin (human)

NCBI chr 1:93,721,449...93,746,638

G

baculoviral IAP repeat containing 3

mRNA:increased expression:perianal skin (human)

NCBI chr 1:93,692,239...93,711,905

Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma

term browser

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Object Name

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Evidence

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Source

PubMed Reference(s)

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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 chr13:23,147,162...24,240,008
Ensembl chr13:23,147,160...23,369,118

cervical squamous cell carcinoma

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G

adenosine deaminase RNA specific

disease_progression

protein:increased expression:cervix squamous epithelium (human)

NCBI chr20:9,194,611...9,241,102
Ensembl chr20:9,219,937...9,241,329

G

BCL2 associated X, apoptosis regulator

protein:increased expression:uterine cervix

NCBI chr 6:42,186,028...42,193,105

G

baculoviral IAP repeat containing 2

disease_progression

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

NCBI chr 1:93,721,449...93,746,638

G

BRCA1 interacting DNA helicase 1

severity

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

NCBI chr16:32,909,226...33,085,551
Ensembl chr16:32,910,693...33,082,587

G

C-C motif chemokine ligand 22

severity

G

C-C motif chemokine receptor 4

severity

NCBI chr15:77,435,195...77,439,164
Ensembl chr15:77,437,265...77,438,347

G

CD82 molecule

protein:decreased expression:uterine cervix

NCBI chr 1:20,736,216...20,793,943
Ensembl chr 1:20,735,287...20,763,160

G

colony stimulating factor 1 receptor

protein:increased expression:uterine cervix

NCBI chr23:52,663,290...52,723,652
Ensembl chr23:52,664,076...52,697,304

G

fibroblast growth factor 7

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

NCBI chr26:33,802,349...33,867,743
Ensembl chr26:33,802,328...33,867,333

G

fibroblast growth factor receptor 3

no_association

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

NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

Fos proto-oncogene, AP-1 transcription factor subunit

disease_progression

protein:increased expression:uterine cervix

NCBI chr24:52,497,465...52,501,161
Ensembl chr24:52,497,521...52,501,514

G

FOS like 1, AP-1 transcription factor subunit

protein:decreased expression:uterine cervix

NCBI chr 1:8,356,263...8,365,606
Ensembl chr 1:8,356,836...8,364,918

G

forkhead box P3

severity

NCBI chr X:46,349,890...46,365,133

G

podoplanin

disease_progression

NCBI chr20:118,644,060...118,679,508
Ensembl chr20:118,644,051...118,679,311

G

SMAD family member 3

severity

NCBI chr26:16,319,959...16,446,472
Ensembl chr26:16,320,933...16,446,527

G

TIMP metallopeptidase inhibitor 2

protein:decreased expression:uterine cervix

NCBI chr16:70,819,591...70,850,471
Ensembl chr16:70,819,139...70,850,471

G

transmembrane BAX inhibitor motif containing 6

disease_progression

mRNA:increased expression:uterine cervix

NCBI chr11:45,976,689...46,001,021
Ensembl chr11:45,976,700...46,001,457

G

TNF receptor superfamily member 4

severity

NCBI chr20:130,231,064...130,234,525
Ensembl chr20:130,231,584...130,234,313

G

TNF superfamily member 4

severity

NCBI chr25:55,714,291...55,998,009
Ensembl chr25:55,974,691...55,997,374

G

tumor protein p53

disease_progression

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

thymidine phosphorylase

disease_progression

NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215

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 chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

epidermodysplasia verruciformis

term browser

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Object Name

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

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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 chr16:43,585,975...43,605,452
Ensembl chr16:43,589,522...43,605,220

G

transmembrane channel like 8

ClinVar Annotator: match by term: Epidermodysplasia verruciformis

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

NCBI chr16:43,575,479...43,588,888
Ensembl chr16:43,573,867...43,587,019

G

trinucleotide repeat containing adaptor 6C

ClinVar Annotator: match by term: Epidermodysplasia verruciformis

NCBI chr16:43,610,595...43,718,117
Ensembl chr16:43,613,223...43,717,852

Epidermodysplasia Verruciformis 1

term browser

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Object Name

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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 chr16:43,585,975...43,605,452
Ensembl chr16:43,589,522...43,605,220

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 chr16:43,575,479...43,588,888
Ensembl chr16:43,573,867...43,587,019

Epidermodysplasia Verruciformis 2

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane channel like 6

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 chr16:43,585,975...43,605,452
Ensembl chr16:43,589,522...43,605,220

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 chr16:43,575,479...43,588,888
Ensembl chr16:43,573,867...43,587,019

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 chr29:8,777,202...8,781,027
Ensembl chr29:8,777,436...8,781,030

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 chr16:65,361,893...65,367,634
Ensembl chr16:65,362,903...65,367,941

G

transmembrane protein 99 (putative)

ClinVar Annotator: match by term: Epidermolytic acanthoma

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

NCBI chr16:65,350,270...65,351,125

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 chr 9:92,826,423...92,902,389
Ensembl chr 9:92,841,818...92,902,265

G

adenylate cyclase activating polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:60,259,479...60,267,302

G

ajuba LIM protein

CTD Direct Evidence: marker/mechanism

NCBI chr29:23,341,841...23,352,630
Ensembl chr29:23,341,249...23,352,685

G

AKT serine/threonine kinase 1

disease_progression

protein:increased expression:esophagus (human)

NCBI chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698

G

aldehyde dehydrogenase 2 family member

CTD Direct Evidence: marker/mechanism

PMID:16639733 PMID:22960999

NCBI chr11:107,019,015...107,060,784
Ensembl chr11:107,019,111...107,060,374

G

annexin A1

CTD Direct Evidence: marker/mechanism

NCBI chr12:84,207,818...84,226,438
Ensembl chr12:84,207,820...84,226,562

G

ATM serine/threonine kinase

disease_progression

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

NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520

G

ATPase Na+/K+ transporting subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:7,030,016...7,035,620
Ensembl chr16:7,030,055...7,037,754

G

axin 1

disease_progression

protein:decreased expression:esophagus (human)

NCBI chr 5:233,520...295,134
Ensembl chr 5:234,060...290,575

G

alpha-2-glycoprotein 1, zinc-binding

disease_progression

NCBI chr28:13,104,262...13,120,329
Ensembl chr28:13,104,323...13,120,363

G

antizyme inhibitor 1

NCBI chr 8:97,679,775...97,717,486
Ensembl chr 8:97,679,468...97,696,928

G

beta-2-microglobulin

CTD Direct Evidence: marker/mechanism

NCBI chr26:38,331,818...38,338,785
Ensembl chr26:38,331,442...38,338,809

G

biliverdin reductase B

CTD Direct Evidence: marker/mechanism

NCBI chr 6:34,902,632...34,925,105
Ensembl chr 6:34,902,598...34,925,100

G

BMI1 proto-oncogene, polycomb ring finger

NCBI chr 9:22,095,592...22,104,894

G

bone morphogenetic protein 6

protein:increased expression:esophagus

NCBI chr17:64,279,243...64,436,356
Ensembl chr17:64,280,609...64,435,382

G

BRCA1 DNA repair associated

DNA:SNP: :rs799917 (human)

NCBI chr16:63,162,827...63,243,928

G

BRCA2 DNA repair associated

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

NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213

G

bone marrow stromal cell antigen 2

disease_progression

NCBI chr 6:15,900,396...15,903,072
Ensembl chr 6:15,900,011...15,903,060

G

BUB1 mitotic checkpoint serine/threonine kinase B

CTD Direct Evidence: marker/mechanism

NCBI chr26:42,769,955...42,855,353
Ensembl chr26:42,792,830...42,855,306

G

carbonic anhydrase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:80,699,114...80,729,932
Ensembl chr 8:80,699,651...80,712,858

G

carbonic anhydrase 12

severity

NCBI chr26:20,162,706...20,221,680
Ensembl chr26:20,162,926...20,224,502

G

carbonic anhydrase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:80,830,963...80,848,245
Ensembl chr 8:80,830,939...80,848,707

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 6:11,618,691...11,624,299
Ensembl chr 6:11,618,396...11,623,792

G

capping actin protein of muscle Z-line subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:20,968,348...21,017,256
Ensembl chr20:20,969,828...20,991,971

G

caspase 8

exacerbates

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

NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829

G

chromobox 8

severity

mRNA:increased expression:esophagus:

NCBI chr16:71,755,598...71,760,611
Ensembl chr16:71,755,627...71,760,632

G

coiled-coil alpha-helical rod protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:41,319,392...41,334,661
Ensembl chr17:41,319,423...41,334,502

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: therapeutic

NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342

G

cofilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:8,408,560...8,410,564

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 chr26:4,747,734...4,779,231
Ensembl chr26:4,749,766...4,776,822

G

cholinergic receptor nicotinic alpha 7 subunit

exacerbates
disease_progression

mRNA:increased expression:esophagus (human)

PMID:27610024 PMID:33603170

RGD:151361143 RGD:151667905

NCBI chr26:50,554,143...50,686,847
Ensembl chr26:50,551,829...50,686,803

G

cholinergic receptor nicotinic beta 4 subunit

mRNA:increased expression:esophagus (human)

NCBI chr26:4,700,217...4,717,363
Ensembl chr26:4,701,321...4,719,319

G

chloride intracellular channel 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:40,286,051...40,292,377
Ensembl chr17:40,286,491...40,292,113

G

CLPTM1 like

susceptibility
no_association

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

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

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

NCBI chr 4:1,140,272...1,162,663
Ensembl chr 4:1,140,132...1,162,898

G

collagen type XIV alpha 1 chain

disease_progression

DNA:hypermethylation

NCBI chr 8:114,701,662...114,946,216
Ensembl chr 8:114,701,664...114,887,483

G

cellular retinoic acid binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:4,987,927...4,996,431
Ensembl chr26:4,987,882...4,996,343

G

CREB binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943

G

colony stimulating factor 1 receptor

mRNA:decreased expression:esophagus squamous epithelium (human)

NCBI chr23:52,663,290...52,723,652
Ensembl chr23:52,664,076...52,697,304

G

cystatin B

CTD Direct Evidence: marker/mechanism

NCBI chr 2:87,551,341...87,555,145

G

C-X-C motif chemokine ligand 8

severity

mRNA:increased expression:esophagus (human)

NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068

G

C-X-C motif chemokine receptor 4

disease_progression

protein:increased expression:esophagus squamous epithelium (human)

NCBI chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309

G

cytochrome P450 family 1 subfamily A member 1

NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384

G

cytochrome P450 family 1 subfamily B member 1

protein:increased expression:esophagus (rat)

NCBI chr14:69,318,713...69,327,277
Ensembl chr14:69,319,495...69,324,157

G

cytochrome P450 family 24 subfamily A member 1

susceptibility

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

NCBI chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884

G

cytochrome P450 family 26 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:35,030,011...35,057,164
Ensembl chr14:35,038,654...35,057,176

G

DAB2 interacting protein

severity

protein:decreased expression:esophagus (human)

NCBI chr12:17,802,030...18,017,648
Ensembl chr12:17,801,831...17,830,890

G

DCC netrin 1 receptor

NCBI chr18:27,437,224...28,623,717
Ensembl chr18:27,442,489...28,212,697

G

death inducer-obliterator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:1,285,027...1,345,726
Ensembl chr 2:1,285,051...1,345,846

G

DNA methyltransferase 3 beta

disease_progression

protein:increased expression:nucleus:

NCBI chr 2:37,128,635...37,176,033
Ensembl chr 2:37,146,538...37,174,570

G

dipeptidyl peptidase 4

protein:increased expression: esophagus

NCBI chr10:47,396,605...47,481,478
Ensembl chr10:47,394,093...47,480,893

G

ephrin B2

severity
exacerbates
ameliorates

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

PMID:17611172 PMID:29190834 PMID:31885720

RGD:153300947 RGD:153300948 RGD:153300949

NCBI chr 3:84,904,421...84,949,292
Ensembl chr 3:84,904,435...84,949,465

G

epidermal growth factor receptor

severity

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

PMID:10385363 PMID:21947696

NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239

G

euchromatic histone lysine methyltransferase 1

disease_progression

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

PMID:24649311 PMID:24805087

RGD:9589143 RGD:9590071

NCBI chr12:380,041...545,333
Ensembl chr12:379,943...497,033

G

euchromatic histone lysine methyltransferase 2

disease_progression

protein:increased expression:esophagus mucosa:

NCBI chr17:40,123,935...40,141,942
Ensembl chr17:40,124,640...40,141,616

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

PMID:17965222 PMID:25151357

NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979

G

erythrocyte membrane protein band 4.1 like 3

disease_progression

DNA:hypermethylation

NCBI chr18:64,489,194...64,704,733
Ensembl chr18:64,489,042...64,585,973

G

EPH receptor B4

exacerbates

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

NCBI chr28:12,389,884...12,416,746
Ensembl chr28:12,389,942...12,416,920

G

erb-b2 receptor tyrosine kinase 4

disease_progression
susceptibility

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

PMID:18000820 PMID:24916311

RGD:126781764 RGD:126781765

NCBI chr10:97,099,090...98,281,697

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

NCBI chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

disease_progression

PMID:21165554 PMID:25613619

RGD:126781697 RGD:126781701

NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573

G

FA complementation group A

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

NCBI chr 5:75,073,161...75,149,110
Ensembl chr 5:75,073,358...75,148,591

G

fibroblast activation protein alpha

protein:increased expression: esophagus

NCBI chr10:47,578,164...47,652,179
Ensembl chr10:47,577,888...47,652,689

G

fatty acid synthase

CTD Direct Evidence: marker/mechanism

NCBI chr16:73,988,410...74,008,374
Ensembl chr16:73,982,899...74,006,551

G

FAT atypical cadherin 1

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

PMID:24590895 PMID:25151357 PMID:29365412

RGD:151347630 RGD:151347646

NCBI chr 7:132,475,689...132,616,151
Ensembl chr 7:132,483,032...132,616,112

G

FAT atypical cadherin 2

CTD Direct Evidence: marker/mechanism

NCBI chr23:54,064,687...54,152,696
Ensembl chr23:54,064,393...54,152,416

G

FAT atypical cadherin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:83,471,266...84,159,858
Ensembl chr 1:83,609,116...84,158,537

G

FAT atypical cadherin 4

CTD Direct Evidence: marker/mechanism

NCBI chr 7:72,498,182...72,686,607
Ensembl chr 7:72,500,264...72,685,546

G

F-box and WD repeat domain containing 7

CTD Direct Evidence: marker/mechanism

NCBI chr 7:98,894,261...99,105,955
Ensembl chr 7:98,892,504...99,106,084

G

FES proto-oncogene, tyrosine kinase

exacerbates

DNA:hypermethylation: (human)

NCBI chr29:8,967,542...8,979,475
Ensembl chr29:8,965,997...8,979,361

G

fibroblast growth factor receptor 4

treatment

NCBI chr23:79,095,031...79,106,018
Ensembl chr23:79,097,429...79,105,456

G

FKBP prolyl isomerase 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 2:55,170,816...55,195,380

G

forkhead box A1

onset

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

PMID:27050876 PMID:29788741

RGD:151665743 RGD:151665759

NCBI chr24:14,397,759...14,403,078
Ensembl chr24:14,396,702...14,403,094

G

far upstream element binding protein 1

exacerbates

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

PMID:26490982 PMID:32481602

RGD:151361192 RGD:151361197

NCBI chr20:55,194,681...55,233,666
Ensembl chr20:55,194,743...55,230,277

G

GDP dissociation inhibitor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:5,876,245...5,923,011
Ensembl chr 9:5,877,042...5,922,968

G

glyoxalase I

CTD Direct Evidence: marker/mechanism

NCBI chr17:33,446,134...33,472,240
Ensembl chr17:33,446,145...33,473,699

G

glutathione peroxidase 3

disease_progression

DNA:hypermethylation

PMID:25050929 PMID:30018730

RGD:151665494 RGD:151665741

NCBI chr23:53,576,950...53,585,321

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 chr16:66,416,978...66,427,035
Ensembl chr16:66,416,904...66,426,300

G

glutathione S-transferase omega 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:97,305,094...97,317,892

G

glutathione S-transferase pi 1

DNA:polymorphism: :p.I105V (human)

NCBI chr 1:6,676,897...6,679,936

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288

G

high mobility group box 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:9,353,333...9,357,765

G

high mobility group nucleosome binding domain 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:70,103,170...70,201,472
Ensembl chr X:70,102,034...70,111,019

G

homeobox B7

severity

protein:increased expression:esophageal mucosa (human)

NCBI chr16:69,020,325...69,024,362
Ensembl chr16:69,020,906...69,023,671

G

heat shock protein family A (Hsp70) member 5

CTD Direct Evidence: marker/mechanism

NCBI chr12:12,920,705...12,925,888
Ensembl chr12:12,920,710...12,927,431

G

HtrA serine peptidase 1

exacerbates
ameliorates

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

NCBI chr 9:115,197,543...115,250,092
Ensembl chr 9:115,197,566...115,253,919

G

Janus kinase 2

severity

protein:increased phosphorylation:esophagus squamous epithelium (human)

NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710

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 6:11,479,108...11,480,942
Ensembl chr 6:11,479,407...11,480,450

G

lysine acetyltransferase 2B

mRNA:decreased expression:esophagus (human)

NCBI chr15:64,769,590...64,885,536
Ensembl chr15:64,770,185...64,886,219

G

lysine demethylase 4C

severity
susceptibility

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

PMID:15805246 PMID:24224128

RGD:9587746 RGD:9587752

NCBI chr12:72,346,194...72,763,040
Ensembl chr12:72,347,071...72,761,666

G

lysine demethylase 5B

severity

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

NCBI chr25:26,599,740...26,685,256
Ensembl chr25:26,600,736...26,683,632

G

lysine demethylase 6A

ameliorates

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

PMID:25151357 PMID:29351209 PMID:31804468

RGD:150429739 RGD:150429742 RGD:9588233

NCBI chr X:42,053,272...42,291,013
Ensembl chr X:42,053,336...42,290,526

G

lysine methyltransferase 2C

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

NCBI chr21:120,299,295...120,587,843
Ensembl chr21:120,301,188...120,587,137

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 chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423

G

keratin 13

CTD Direct Evidence: marker/mechanism

NCBI chr16:64,735,285...64,740,791

G

keratin 16

NCBI chr16:64,629,385...64,633,125
Ensembl chr16:64,630,042...64,633,114

G

keratin 17

CTD Direct Evidence: marker/mechanism

NCBI chr16:64,615,194...64,622,931
Ensembl chr16:64,617,219...64,622,971

G

keratin 19

CTD Direct Evidence: marker/mechanism

NCBI chr16:64,714,497...64,719,805
Ensembl chr16:64,714,970...64,719,678

G

keratin 7

disease_progression

NCBI chr11:48,379,460...48,394,638
Ensembl chr11:48,379,465...48,394,643

G

protein patched homolog 1

disease_progression

NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985

G

histone H2B type 1-M

CTD Direct Evidence: marker/mechanism

NCBI chr17:44,715,875...44,716,426
Ensembl chr17:44,715,922...44,716,299

G

glutathione S-transferase Mu 1

no_association

PMID:11860825 PMID:17916905 PMID:25432134

RGD:14700943 RGD:14700948 RGD:14700982

NCBI chr20:23,854,969...23,861,634

G

isocitrate dehydrogenase (NADP(+)) 2

severity

human cells in mouse model

NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657

G

metallothionein-1X

CTD Direct Evidence: marker/mechanism

NCBI chr 5:42,637,027...42,638,751
Ensembl chr 5:42,637,113...42,638,611

G

keratin, type I cytoskeletal 14

CTD Direct Evidence: marker/mechanism

NCBI chr16:64,654,988...64,660,327
Ensembl chr16:64,655,807...64,660,319

G

lysyl oxidase like 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:21,416,821...21,516,923
Ensembl chr 8:21,416,787...21,516,854

G

lymphotoxin alpha

CTD Direct Evidence: marker/mechanism

G

leucine zipper tumor suppressor 1

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

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

NCBI chr 8:18,315,243...18,377,492
Ensembl chr 8:18,315,130...18,324,345

G

mitotic arrest deficient 2 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:67,351,785...67,360,244

G

mitogen-activated protein kinase kinase kinase 1

sexual_dimorphism

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

NCBI chr 4:53,040,731...53,120,784
Ensembl chr 4:53,084,023...53,120,772

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 chr22:51,616,840...51,626,232
Ensembl chr22:51,616,803...51,626,224

G

O-6-methylguanine-DNA methyltransferase

disease_progression

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

PMID:21674174 PMID:25520135

NCBI chr 9:122,089,768...122,376,320

G

mutL homolog 1

disease_progression

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

NCBI chr15:2,364,537...2,418,379
Ensembl chr15:2,364,738...2,418,393

G

matrix metallopeptidase 14

protein:increased expression: esophagus

NCBI chr29:23,201,425...23,212,408
Ensembl chr29:23,201,112...23,212,679

G

matrix metallopeptidase 2

protein:increased activity: esophagus

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

G

matrix metallopeptidase 9

protein:increased activity: esophagus

NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712

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 chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:13,712,140...13,871,777
Ensembl chr20:13,712,292...13,871,784

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:13,762,570...13,803,676
Ensembl chr 6:13,761,512...13,793,359

G

8-oxoguanine DNA glycosylase

CTD Direct Evidence: marker/mechanism

NCBI chr22:45,757,414...45,763,690

G

PAXIP1 associated glutamate rich protein 1

mRNA, protein:decreased expression:esophagus (human)

NCBI chr 5:26,833,333...26,837,655
Ensembl chr 5:26,833,675...26,837,640

G

PBX homeobox 3

RNA:increased expression:esophagus squamous epithelium (human)

NCBI chr12:12,174,407...12,400,184

G

profilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:4,426,853...4,430,259
Ensembl chr16:4,426,962...4,429,713

G

phospholipase C epsilon 1

CTD Direct Evidence: marker/mechanism

PMID:20729852 PMID:20729853

NCBI chr 9:87,214,166...87,559,010
Ensembl chr 9:87,214,355...87,555,733

G

peroxiredoxin 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:87,267,026...87,277,634
Ensembl chr20:87,267,044...87,279,978

G

proteasome 20S subunit beta 9

disease_progression

NCBI chr17:39,246,356...39,251,852
Ensembl chr17:39,245,854...39,251,842

G

proteasome activator subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:1,122,086...1,124,907
Ensembl chr24:1,122,631...1,125,416

G

proteasome activator subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr24:1,129,389...1,133,289
Ensembl chr24:1,129,419...1,132,596

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:15756444 PMID:16543248 PMID:18197933

NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429

G

protein tyrosine phosphatase receptor type T

susceptibility

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

NCBI chr 2:20,613,352...21,720,417

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546

G

RPTOR independent companion of MTOR complex 2

severity
disease_progression

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

PMID:28132115 PMID:30119206 PMID:32642408

RGD:152995460 RGD:152995470 RGD:152995512

NCBI chr 4:37,758,531...37,885,323
Ensembl chr 4:37,762,901...37,873,766

G

ring finger protein 6

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

NCBI chr 3:5,461,053...5,471,268
Ensembl chr 3:5,462,126...5,468,555

G

RUNX family transcription factor 2

mRNA:increased expression:esophagus mucosa

NCBI chr17:26,679,386...26,807,812
Ensembl chr17:26,683,175...26,807,319

G

RUNX family transcription factor 3

disease_progression

mRNA:decreased expression:esophagus mucosa

NCBI chr20:107,769,244...107,802,154
Ensembl chr20:107,736,683...107,802,307

G

spalt like transcription factor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 2:12,179,721...12,199,629
Ensembl chr 2:12,182,357...12,199,321

G

SET domain containing 5

disease_progression

NCBI chr22:45,391,871...45,475,183
Ensembl chr22:45,430,660...45,475,217

G

stratifin

CTD Direct Evidence: marker/mechanism

NCBI chr20:105,902,481...105,904,313
Ensembl chr20:105,902,974...105,903,720

G

solute carrier family 16 member 10

protein:increased expression:esophagus

NCBI chr13:62,645,692...62,787,508
Ensembl chr13:62,646,876...62,786,048

G

solute carrier family 1 member 5

disease_progression

protein:increased expression:esophagus

PMID:26936531 PMID:33609949

RGD:11532833 RGD:151361149

NCBI chr 6:40,139,417...40,150,312

G

solute carrier family 39 member 6

CTD Direct Evidence: therapeutic

NCBI chr18:44,681,718...44,702,741
Ensembl chr18:44,681,508...44,702,754

G

solute carrier family 52 member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:55,744,934...55,760,957
Ensembl chr 2:55,752,837...55,761,120

G

solute carrier family 7 member 5

disease_progression

protein:increased expression:esophagus

PMID:26936531 PMID:31726270 PMID:33609949

RGD:11532833 RGD:151361144 RGD:151361149

NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754

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 5:10,731,866...10,733,745
Ensembl chr 5:10,732,350...10,732,991

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:18167182 PMID:21517111

NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974

G

SRY-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:7,673,581...7,676,812
Ensembl chr15:7,674,867...7,675,826

G

spen family transcriptional repressor

associated with Neoplasm Metastasis; DNA:mutations

NCBI chr20:116,359,981...116,458,156
Ensembl chr20:116,361,008...116,458,064

G

stromal interaction molecule 1

exacerbates

protein:increased expression:esophagus (human)

NCBI chr 1:62,651,472...62,865,992
Ensembl chr 1:62,651,290...62,865,986

G

stimulator of interferon response cGAMP interactor 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:42,153,576...42,160,903
Ensembl chr23:42,153,026...42,160,907

G

transgelin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:108,570,342...108,575,789
Ensembl chr 1:108,574,007...108,575,348

G

transporter 1, ATP binding cassette subfamily B member

protein:decreased expression:esophagus

NCBI chr17:39,252,000...39,260,195

G

transporter 2, ATP binding cassette subfamily B member

protein:decreased expression:esophagus

NCBI chr17:39,266,870...39,277,658

G

transcobalamin 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:13,489,849...13,511,360
Ensembl chr19:13,490,645...13,511,810

G

telomerase reverse transcriptase

no_association
susceptibility

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

PMID:15112252 PMID:25007268 PMID:26716642

RGD:11572962 RGD:150530488 RGD:152977757

NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468

G

tet methylcytosine dioxygenase 2

severity

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

PMID:26093090 PMID:26873401 PMID:27050164

RGD:11528815 RGD:150429656 RGD:150429668

NCBI chr 7:53,193,824...53,326,813
Ensembl chr 7:53,193,941...53,326,942

G

tet methylcytosine dioxygenase 3

mRNA:decreased expression:esophagus squamous epithelium (human)

NCBI chr14:33,170,046...33,293,128
Ensembl chr14:33,176,039...33,293,906

G

transforming growth factor beta receptor 2

NCBI chr15:75,112,903...75,200,263
Ensembl chr15:75,112,561...75,197,711

G

TNF alpha induced protein 3

severity

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

NCBI chr13:35,537,103...35,553,396
Ensembl chr13:35,537,102...35,549,197

G

TNF alpha induced protein 8

CTD Direct Evidence: marker/mechanism

NCBI chr23:22,514,427...22,636,888
Ensembl chr23:22,573,208...22,636,936

G

tenascin XB

CTD Direct Evidence: marker/mechanism

NCBI chr17:39,919,839...39,988,087
Ensembl chr17:39,919,772...39,986,868

G

tumor protein p53

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

PMID:16543248 PMID:25151357 PMID:28789369

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

triosephosphate isomerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:6,900,762...6,904,188
Ensembl chr11:6,900,787...6,906,787

G

tropomyosin 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:20,458,287...20,487,387
Ensembl chr26:20,466,037...20,487,135

G

tropomyosin 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:44,912,250...44,920,615
Ensembl chr12:44,912,223...44,919,456

G

thioredoxin domain containing 17

CTD Direct Evidence: marker/mechanism

NCBI chr16:6,016,273...6,018,500

G

thymidine phosphorylase

CTD Direct Evidence: marker/mechanism

NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215

G

ubiquitin specific peptidase 8

CTD Direct Evidence: marker/mechanism

NCBI chr26:32,829,627...32,906,493
Ensembl chr26:32,829,523...32,866,073

G

VENT homeobox

CTD Direct Evidence: marker/mechanism

G

WD repeat containing antisense to TP53

disease_progression

NCBI chr16:7,065,531...7,085,590
Ensembl chr16:7,066,333...7,085,625

G

WW domain containing oxidoreductase

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

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

NCBI chr 5:63,580,049...64,698,212
Ensembl chr 5:63,580,741...63,916,157

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 chr14:45,428,279...45,487,965
Ensembl chr14:45,432,619...45,488,723

G

X-ray repair cross complementing 1

susceptibility
no_association
treatment

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

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

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

NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094

G

zinc finger CCHC-type containing 12

CTD Direct Evidence: marker/mechanism

Ferguson-Smith tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transforming growth factor beta receptor 1

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

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

NCBI chr12:40,272,507...40,321,740
Ensembl chr12:40,276,916...40,297,372

focal nonepidermolytic palmoplantar keratoderma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

keratin 16

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

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

NCBI chr16:64,629,385...64,633,125
Ensembl chr16:64,630,042...64,633,114

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 chr16:2,975,771...3,062,952
Ensembl chr16:3,019,602...3,059,594

G

spermatogenesis associated 22

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

NCBI chr16:2,952,912...2,977,812
Ensembl chr16:2,952,968...2,975,704

focal nonepidermolytic palmoplantar keratoderma 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

keratin 16

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

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

NCBI chr16:64,629,385...64,633,125
Ensembl chr16:64,630,042...64,633,114

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 chr16:2,975,771...3,062,952
Ensembl chr16:3,019,602...3,059,594

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 chr16:7,065,531...7,085,590
Ensembl chr16:7,066,333...7,085,625

head and neck squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 5:14,972,589...15,164,594
Ensembl chr 5:14,972,646...15,164,567

G

ATP binding cassette subfamily C member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:92,826,423...92,902,389
Ensembl chr 9:92,841,818...92,902,265

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 7:36,458,110...36,599,753

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

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

NCBI chr12:7,258,932...7,435,658
Ensembl chr12:7,256,648...7,312,734

G

aconitate decarboxylase 1

mRNA:increased expression:cranioceervical (human)

NCBI chr 3:56,037,628...56,048,509
Ensembl chr 3:56,042,149...56,047,680

G

AKT serine/threonine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698

G

ankyrin repeat domain 17

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

NCBI chr 7:21,536,241...21,719,320
Ensembl chr 7:21,535,409...21,683,246

G

ATPase copper transporting beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:29,817,712...29,899,302
Ensembl chr 3:29,816,860...29,899,077

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 chr26:38,331,818...38,338,785
Ensembl chr26:38,331,442...38,338,809

G

baculoviral IAP repeat containing 2

exacerbates

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

NCBI chr 1:93,721,449...93,746,638

G

baculoviral IAP repeat containing 3

ameliorates

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

NCBI chr 1:93,692,239...93,711,905

G

B-Raf proto-oncogene, serine/threonine kinase

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

NCBI chr21:109,495,525...109,690,261

G

caspase 8

CTD Direct Evidence: marker/mechanism

NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829

G

coiled-coil domain containing 3

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

NCBI chr 9:12,940,629...13,091,520

G

cyclin A1

CTD Direct Evidence: marker/mechanism

PMID:23358896 PMID:29464035

NCBI chr 3:14,979,775...14,992,609
Ensembl chr 3:14,982,392...14,993,562

G

cyclin A2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:69,092,410...69,100,191
Ensembl chr 7:69,093,543...69,099,497

G

cyclin B1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:65,265,798...65,276,465
Ensembl chr 4:65,265,844...65,277,085

G

cyclin D1

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:9796972 PMID:26909611 PMID:29464035

NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357

G

cyclin E1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:24,879,923...24,888,985

G

cyclin E2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:89,846,670...89,863,432
Ensembl chr 8:89,848,077...89,862,037

G

cell division cycle 73

exacerbates

protein:increased expression:squamous epithelium (human)

NCBI chr25:36,167,482...36,302,918
Ensembl chr25:36,170,134...36,302,812

G

cyclin dependent kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:51,905,085...51,910,209
Ensembl chr11:51,905,115...51,909,907

G

cyclin dependent kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861

G

cyclin dependent kinase 6

CTD Direct Evidence: marker/mechanism

NCBI chr21:56,167,731...56,403,976
Ensembl chr21:56,170,450...56,393,808

G

chromodomain helicase DNA binding protein 4

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

NCBI chr11:6,603,820...6,641,278
Ensembl chr11:6,602,694...6,640,351

G

claudin 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:84,518,464...84,533,587
Ensembl chr15:84,516,478...84,532,969

G

contactin 4

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

NCBI chr22:38,177,481...39,145,568
Ensembl chr22:38,813,569...39,146,953

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 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943

G

catenin beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949

G

cytochrome P450 family 2 subfamily C member 19

treatment

DNA:polymorphisms: :CYP2C19*2(human)

NCBI chr 9:87,981,300...88,025,007

G

cytochrome P450 family 2 subfamily C member 9

treatment

DNA:polymorphisms: :CYP2C9*2(human)

NCBI chr 9:88,082,124...88,125,390

G

cytochrome P450 family 2 subfamily D member 6

treatment

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

NCBI chr19:24,667,207...24,672,580
Ensembl chr19:24,667,282...24,671,513

G

discoidin domain receptor tyrosine kinase 2

severity

NCBI chr20:1,298,636...1,451,872
Ensembl chr20:1,299,574...1,359,674

G

DNA methyltransferase 3 beta

susceptibility

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

NCBI chr 2:37,128,635...37,176,033
Ensembl chr 2:37,146,538...37,174,570

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 chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239

G

erb-b2 receptor tyrosine kinase 2

disease_progression

NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952

G

erb-b2 receptor tyrosine kinase 4

severity

NCBI chr10:97,099,090...98,281,697

G

FA complementation group B

DNA:hypermethylation:promoter

NCBI chr X:13,321,304...13,352,368
Ensembl chr X:13,321,527...13,342,478

G

FA complementation group D2

NCBI chr22:46,072,797...46,141,107
Ensembl chr22:46,072,761...46,140,713

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 chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

fibroblast growth factor receptor 4

severity

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

NCBI chr23:79,095,031...79,106,018
Ensembl chr23:79,097,429...79,105,456

G

fragile histidine triad diadenosine triphosphatase

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

NCBI chr22:21,006,010...22,474,056

G

glutamate ionotropic receptor kainate type subunit 2

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

NCBI chr13:71,855,960...72,545,376
Ensembl chr13:71,855,794...72,325,857

G

homeobox A5

CTD Direct Evidence: marker/mechanism

NCBI chr21:31,224,017...31,227,819
Ensembl chr21:31,224,977...31,227,994

G

homeobox D10

CTD Direct Evidence: marker/mechanism

NCBI chr10:61,686,868...61,694,965
Ensembl chr10:61,691,797...61,694,415

G

homeobox D11

CTD Direct Evidence: marker/mechanism

NCBI chr10:61,681,474...61,693,974
Ensembl chr10:61,682,400...61,684,168

G

HRas proto-oncogene, GTPase

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

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

NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637

G

interferon lambda 3

CTD Direct Evidence: therapeutic

NCBI chr 6:33,843,140...33,845,444

G

insulin like growth factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611

G

interleukin 1 receptor accessory protein

CTD Direct Evidence: marker/mechanism

NCBI chr15:84,728,594...84,876,098
Ensembl chr15:84,728,517...84,866,263

G

interleukin 2

PMID:2787951 PMID:3263896

RGD:8662923 RGD:8662971

NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969

G

inhibitor of growth family member 1

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

NCBI chr 3:88,935,764...88,943,887
Ensembl chr 3:88,937,297...88,943,046

G

insulin receptor substrate 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:112,748,283...112,812,368

G

JunB proto-oncogene, AP-1 transcription factor subunit

ameliorates

human cell line in a mouse model

NCBI chr 6:11,479,108...11,480,942
Ensembl chr 6:11,479,407...11,480,450

G

KiSS-1 metastasis suppressor

CTD Direct Evidence: therapeutic

NCBI chr25:25,151,642...25,159,723

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 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976

G

ligand of numb-protein X 1

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

NCBI chr 7:14,887,003...15,072,382
Ensembl chr 7:14,971,513...15,071,771

G

leucine rich repeat containing 56

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

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

NCBI chr 1:352,131...370,276
Ensembl chr 1:355,982...369,633

G

O-6-methylguanine-DNA methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:122,089,768...122,376,320

G

matrix metallopeptidase 2

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

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

G

NLR family apoptosis inhibitory protein

ameliorates

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

NCBI chr 4:65,693,044...65,742,527

G

nicotinamide phosphoribosyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr21:75,160,748...75,195,781
Ensembl chr21:75,158,596...75,196,025

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:127,668,012...127,727,918
Ensembl chr 8:127,667,981...127,719,011

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr X:127,342,788...127,389,117
Ensembl chr X:127,342,850...127,390,536

G

8-oxoguanine DNA glycosylase

susceptibility

DNA:SNP: :rs1052133 (human)

PMID:21727658 PMID:22081374

RGD:8657144 RGD:8657147

NCBI chr22:45,757,414...45,763,690

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 chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316

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 6:44,990,402...45,026,210
Ensembl chr 6:44,990,367...45,026,227

G

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

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

NCBI chr 8:63,781,892...64,061,222
Ensembl chr 8:63,781,948...64,060,864

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 chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429

G

protein tyrosine phosphatase non-receptor type 13

susceptibility

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

PMID:19672627 PMID:19892796

RGD:152176661 RGD:152176665

NCBI chr 7:34,974,028...35,200,214
Ensembl chr 7:34,974,082...35,200,293

G

RAS guanyl releasing protein 3

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

NCBI chr14:73,871,343...73,950,119
Ensembl chr14:73,895,534...73,946,358

G

RB transcriptional corepressor 1

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

NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546

G

sterile alpha motif domain containing 4A

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

NCBI chr24:31,743,735...31,976,009
Ensembl chr24:31,743,560...31,976,053

G

serpin family E member 1

severity

protein:increased expression:oral mucosa (human)

NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202

G

SMAD family member 4

NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478

G

syntrophin beta 1

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

NCBI chr 8:115,117,224...115,391,475
Ensembl chr 8:115,117,756...115,391,537

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974

G

signal transducer and activator of transcription 3

treatment

CTD Direct Evidence: marker/mechanism

PMID:24395569 PMID:27064016

NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984

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 6:973,033...996,857
Ensembl chr 6:974,144...995,136

G

TNF receptor superfamily member 10a

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

NCBI chr 8:21,318,987...21,351,641
Ensembl chr 8:21,315,149...21,351,673

G

TNF receptor superfamily member 10b

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

PMID:25741868 PMID:28492532

NCBI chr 8:21,101,945...21,150,362
Ensembl chr 8:21,102,267...21,150,267

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 chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

vesicle associated membrane protein 7

CTD Direct Evidence: marker/mechanism

NCBI chr X:129,937,026...129,984,071
Ensembl chr X:129,937,046...129,984,119

G

WEE1 G2 checkpoint kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:55,225,615...55,247,112
Ensembl chr 1:55,231,292...55,245,859

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 chr16:7,065,531...7,085,590
Ensembl chr16:7,066,333...7,085,625

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 1:93,479,478...93,605,340
Ensembl chr 1:93,479,135...93,606,808

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 chr16:65,361,893...65,367,634
Ensembl chr16:65,362,903...65,367,941

G

transmembrane protein 99 (putative)

ClinVar Annotator: match by term: Ichthyosis hystrix gravior

PMID:17355236 PMID:27212473

NCBI chr16:65,350,270...65,351,125

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 chr10:89,471,710...89,505,152
Ensembl chr10:89,471,730...89,500,387

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 chr27:10,061,316...10,109,124
Ensembl chr27:10,062,014...10,062,589

immunodeficiency 130

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 7

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

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

NCBI chr 8:74,230,493...74,292,985
Ensembl chr 8:74,231,809...74,292,384

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 chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342

G

hepatocyte growth factor

protein:increased expression:inferior nasal concha:

NCBI chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504

G

kinase insert domain receptor

protein:increased expression:inferior nasal concha:

NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771

G

vascular endothelial growth factor A

protein:increased expression:inferior nasal concha:

NCBI chr17:28,377,959...28,394,508

keratoacanthoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 1

ClinVar Annotator: match by term: Keratoacanthoma

NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585

G

notch receptor 2

ClinVar Annotator: match by term: Keratoacanthoma

NCBI chr20:13,712,140...13,871,777
Ensembl chr20:13,712,292...13,871,784

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 chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316

Laryngeal Papillomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

prostaglandin-endoperoxide synthase 2

NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429

G

serpin family A member 3

protein:decreased expression:serum

NCBI chr24:72,388,948...72,415,746
Ensembl chr24:72,402,560...72,415,507

G

transporter 1, ATP binding cassette subfamily B member

NCBI chr17:39,252,000...39,260,195

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 chr 2:19,167,209...19,200,233

G

catalase

protein:increased activity:larynx

NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592

G

cell division cycle 73

disease_progression

protein:decreased expression:larynx (human)

NCBI chr25:36,167,482...36,302,918
Ensembl chr25:36,170,134...36,302,812

G

cyclin dependent kinase inhibitor 1A

NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342

G

chromodomain helicase DNA binding protein 4

exacerbates

mRNA:increased expression:larynx (human)

NCBI chr11:6,603,820...6,641,278
Ensembl chr11:6,602,694...6,640,351

G

epidermal growth factor receptor

disease_progression

NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239

G

erb-b2 receptor tyrosine kinase 2

disease_progression

NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952

G

erb-b2 receptor tyrosine kinase 3

disease_progression

NCBI chr11:52,020,912...52,043,809
Ensembl chr11:52,021,058...52,044,028

G

erb-b2 receptor tyrosine kinase 4

disease_progression

NCBI chr10:97,099,090...98,281,697

G

forkhead box L2

exacerbates

mRNA:increased expression:larynx (human)

NCBI chr15:51,595,806...51,598,124
Ensembl chr15:51,596,218...51,597,348

G

glutathione peroxidase 1

disease_progression
no_association

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

PMID:24074040 PMID:27188866 PMID:28641905

RGD:152995454 RGD:152995455 RGD:152995493

NCBI chr22:10,754,976...10,756,617

G

mitogen-activated protein kinase kinase 4

severity

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

NCBI chr16:11,366,610...11,485,411
Ensembl chr16:11,366,751...11,486,125

G

mutL homolog 1

disease_progression

mRNA:decreased expression:larynx

NCBI chr15:2,364,537...2,418,379
Ensembl chr15:2,364,738...2,418,393

G

matrix metallopeptidase 2

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

G

mutS homolog 2

disease_progression

mRNA:decreased expression:larynx

NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819

G

N-acetyltransferase 2

susceptibility

DNA:polymorphisms: :

PMID:16155914 PMID:19922706

RGD:5131602 RGD:5131856

NCBI chr 8:16,451,144...16,494,961
Ensembl chr 8:16,493,749...16,494,621

G

phospholipase C gamma 1

ameliorates

mRNA:increased expression:larynx (human)

NCBI chr 2:22,599,547...22,638,394

G

RELA proto-oncogene, NF-kB subunit

severity

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

NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516

G

xanthine dehydrogenase

protein:increased activity:larynx

NCBI chr14:76,084,693...76,162,840
Ensembl chr14:76,085,368...76,163,936

G

X-ray repair cross complementing 1

ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma

NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094

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 chr14:77,632,809...78,408,307

G

Rho GTPase activating protein 44

mRNA:decreased expression:lung (human)

NCBI chr16:12,125,543...12,328,203
Ensembl chr16:12,125,574...12,330,501

G

AT-rich interaction domain 1A

exacerbates

protein:decreased expression:lung (human)

NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672

G

actin related protein 2/3 complex subunit 5

mRNA:increased expression:lung (human)

NCBI chr25:45,731,049...45,740,533
Ensembl chr25:45,731,326...45,739,508

G

ATM serine/threonine kinase

susceptibility

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

NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520

G

ATRX chromatin remodeler

severity

NCBI chr X:66,449,830...66,737,220
Ensembl chr X:66,448,449...66,737,164

G

baculoviral IAP repeat containing 5

disease_progression

mRNA:increased expression:lung (human)

NCBI chr16:70,226,824...70,237,000

G

baculoviral IAP repeat containing 6

disease_progression

mRNA:increased expression:lung (human)

NCBI chr14:74,879,597...75,138,462
Ensembl chr14:74,878,700...75,138,441

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 chr21:109,495,525...109,690,261

G

basigin (Ok blood group)

mRNA:increased expression:lung

NCBI chr 6:309,579...320,209
Ensembl chr 6:309,506...321,785

G

Cbl proto-oncogene B

disease_progression

NCBI chr22:74,961,831...75,181,307
Ensembl chr22:74,961,859...75,178,548

G

cyclin D1

disease_progression

protein:increased expression:lung

NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357

G

cyclin D2

DNA:hypermethylation:promoter

NCBI chr11:4,307,419...4,339,003
Ensembl chr11:4,307,401...4,333,661

G

cyclin dependent kinase 4

protein:increased expression:lung

NCBI chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861

G

chromodomain helicase DNA binding protein 4

mRNA:increased expression:lung (human)

NCBI chr11:6,603,820...6,641,278
Ensembl chr11:6,602,694...6,640,351

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 chr26:4,747,734...4,779,231
Ensembl chr26:4,749,766...4,776,822

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 chr26:4,700,217...4,717,363
Ensembl chr26:4,701,321...4,719,319

G

CLPTM1 like

no_association
susceptibility

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

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

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

NCBI chr 4:1,140,272...1,162,663
Ensembl chr 4:1,140,132...1,162,898

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 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943

G

colony stimulating factor 1 receptor

protein:increased expression:lung (human)

NCBI chr23:52,663,290...52,723,652
Ensembl chr23:52,664,076...52,697,304

G

catenin beta 1

disease_progression

protein:increased expression:lung

NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949

G

cytochrome P450 family 1 subfamily B member 1

susceptibility

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

NCBI chr14:69,318,713...69,327,277
Ensembl chr14:69,319,495...69,324,157

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 chr20:1,298,636...1,451,872
Ensembl chr20:1,299,574...1,359,674

G

E2F transcription factor 1

treatment

NCBI chr 2:37,968,541...37,980,461
Ensembl chr 2:37,968,556...37,980,326

G

E2F transcription factor 3

NCBI chr17:51,714,052...51,805,827

G

eukaryotic translation elongation factor 2

disease_progression

protein:increased expression:lung (human)

NCBI chr 6:3,733,056...3,742,526
Ensembl chr 6:3,732,425...3,742,826

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 chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239

G

empty spiracles homeobox 2

exacerbates

protein:decreased expression:lung (human)

NCBI chr 9:110,347,043...110,353,647
Ensembl chr 9:110,347,379...110,353,643

G

ERCC excision repair 6 like, spindle assembly checkpoint helicase

mRNA:increased expression:lung (human)

NCBI chr X:62,013,003...62,061,669

G

fibroblast activation protein alpha

disease_progression

NCBI chr10:47,578,164...47,652,179
Ensembl chr10:47,577,888...47,652,689

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 7:98,894,261...99,105,955
Ensembl chr 7:98,892,504...99,106,084

G

fibroblast growth factor 9

mRNA:decreased expression:lung (human)

NCBI chr 3:1,779,126...1,811,427
Ensembl chr 3:1,779,192...1,812,784

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704

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 chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

fibroblast growth factor receptor 4

disease_progression

human cells in mouse model

NCBI chr23:79,095,031...79,106,018
Ensembl chr23:79,097,429...79,105,456

G

frizzled related protein

protein:decreased expression:lung (human)

NCBI chr10:68,353,393...68,385,135
Ensembl chr10:68,351,922...68,385,110

G

far upstream element binding protein 1

mRNA:decreased expression:lung (human)

NCBI chr20:55,194,681...55,233,666
Ensembl chr20:55,194,743...55,230,277

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 chr22:10,754,976...10,756,617

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Squamous cell lung carcinoma

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

NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637

G

isocitrate dehydrogenase (NADP(+)) 1

protein:increased expression:blood plasma (human)

NCBI chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976

G

lysine methyltransferase 2D

disease_progression

PMID:24323028 PMID:28177435 PMID:30885352

RGD:150523770 RGD:150523776 RGD:150523777

NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423

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 chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

laminin subunit gamma 2

disease_progression

NCBI chr25:46,133,079...46,199,960
Ensembl chr25:46,131,827...46,199,753

G

protein patched homolog 1

disease_progression

DNA:CNVs

NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985

G

cytochrome c

treatment

NCBI chr21:33,251,825...33,253,298

G

isocitrate dehydrogenase (NADP(+)) 2

severity
susceptibility

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

PMID:27649069 PMID:29465809 PMID:30128035

RGD:149735564 RGD:149735566 RGD:149735567

NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657

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 1:352,131...370,276
Ensembl chr 1:355,982...369,633

G

mitogen-activated protein kinase kinase 1

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr26:17,059,122...17,168,787
Ensembl chr26:17,060,054...17,168,782

G

mitogen-activated protein kinase kinase 7

mRNA:decreased expression:lung (human)

NCBI chr 6:7,355,387...7,365,944
Ensembl chr 6:7,355,434...7,364,398

G

MET proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093

G

platelet derived growth factor receptor alpha

ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422

G

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

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316

G

DNA polymerase epsilon, catalytic subunit

ameliorates

DNA:mutations:multiple (human)

NCBI chr11:127,966,879...128,030,442
Ensembl chr11:127,965,896...128,030,292

G

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

mRNA:increased expression:lung (human)

NCBI chr 8:63,781,892...64,061,222
Ensembl chr 8:63,781,948...64,060,864

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

protein tyrosine kinase 2

severity

NCBI chr 8:134,897,511...135,246,300

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 chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637

G

protein tyrosine phosphatase non-receptor type 13

severity
susceptibility

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 7:34,974,028...35,200,214
Ensembl chr 7:34,974,082...35,200,293

G

protein tyrosine phosphatase receptor type J

susceptibility

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

NCBI chr 1:17,137,896...17,328,836
Ensembl chr 1:17,135,907...17,328,590

G

RAD52 homolog, DNA repair protein

ameliorates
susceptibility

DNA:SNP: (rs6489769) (human)

PMID:22585858 PMID:28415565

RGD:151660334 RGD:151660345

NCBI chr11:893,984...989,119
Ensembl chr11:895,292...927,430

G

surfactant protein B

susceptibility

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

PMID:12107845 PMID:16570259

RGD:151667424 RGD:4143389

NCBI chr14:21,487,424...21,497,491
Ensembl chr14:21,488,387...21,499,850

G

solute carrier family 7 member 5

NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754

G

SRY-box transcription factor 30

disease_progression

NCBI chr23:60,013,384...60,038,682
Ensembl chr23:60,014,046...60,037,997

G

SRC proto-oncogene, non-receptor tyrosine kinase

severity

NCBI chr 2:26,344,480...26,367,448
Ensembl chr 2:26,343,450...26,367,776

G

serine and arginine rich splicing factor 1

protein:increased expression:lung epithelium

NCBI chr16:35,392,573...35,396,815
Ensembl chr16:35,392,873...35,394,982

G

serine and arginine rich splicing factor 2

protein:increased expression:lung epithelium,nucleus

NCBI chr16:44,945,193...44,948,496
Ensembl chr16:44,945,200...44,946,438

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Squamous cell lung carcinoma

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

NCBI chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136

G

telomerase reverse transcriptase

susceptibility

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

PMID:23908149 PMID:31935503

RGD:150530498 RGD:150530635

NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468

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 chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

tumor protein p73

treatment

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

PMID:27246533 PMID:30420492

RGD:151347580 RGD:151347584

NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691

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 chr11:48,120,765...48,166,520
Ensembl chr11:48,145,003...48,166,813

G

adenosine deaminase

treatment

NCBI chr 2:19,167,209...19,200,233

G

ADAM metallopeptidase with thrombospondin type 1 motif 2

CTD Direct Evidence: marker/mechanism

NCBI chr23:80,852,588...81,081,593
Ensembl chr23:80,852,331...81,080,218

G

argonaute RISC component 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:96,929,985...96,971,074
Ensembl chr20:96,934,659...96,971,014

G

argonaute RISC catalytic component 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:134,761,651...134,855,971
Ensembl chr 8:134,767,182...134,823,070

G

annexin A2

CTD Direct Evidence: marker/mechanism

NCBI chr26:23,100,000...23,147,687
Ensembl chr26:23,099,992...23,145,457

G

apolipoprotein A1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609

G

BRCA1 associated deubiquitinase 1

CTD Direct Evidence: marker/mechanism

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

NCBI chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740

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 chr20:48,073,489...48,084,635
Ensembl chr20:48,073,800...48,085,136

G

BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895

G

complement C9

CTD Direct Evidence: marker/mechanism

NCBI chr 4:38,082,751...38,165,886
Ensembl chr 4:38,082,457...38,164,164

G

calbindin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:54,503,635...54,538,304
Ensembl chr 5:54,504,082...54,538,441

G

C-C motif chemokine ligand 27

CTD Direct Evidence: marker/mechanism

NCBI chr12:45,956,596...45,959,354
Ensembl chr12:45,958,642...45,959,313

G

C-C motif chemokine ligand 5

CTD Direct Evidence: marker/mechanism

NCBI chr16:29,351,214...29,361,317

G

C-C motif chemokine ligand 7

CTD Direct Evidence: marker/mechanism

NCBI chr16:27,777,795...27,780,413

G

cyclin E2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:89,846,670...89,863,432
Ensembl chr 8:89,848,077...89,862,037

G

CD40 molecule

treatment

NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566

G

cadherin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 5:52,059,987...52,098,595
Ensembl chr 5:52,060,013...52,100,405

G

cyclin dependent kinase 6

CTD Direct Evidence: marker/mechanism

NCBI chr21:56,167,731...56,403,976
Ensembl chr21:56,170,450...56,393,808

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism

NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342

G

cilia and flagella associated protein 45

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,036,029...4,078,608
Ensembl chr20:4,050,311...4,078,587

G

claudin 10

CTD Direct Evidence: marker/mechanism

NCBI chr 3:74,239,087...74,379,699
Ensembl chr 3:74,352,400...74,377,978

G

claudin 15

CTD Direct Evidence: marker/mechanism

NCBI chr28:11,940,318...11,947,811
Ensembl chr28:11,942,271...11,947,627

G

claudin 4

CTD Direct Evidence: marker/mechanism

NCBI chr28:9,242,054...9,244,972
Ensembl chr28:9,242,909...9,243,538

G

claudin 5

CTD Direct Evidence: marker/mechanism

NCBI chr19:6,227,881...6,230,199
Ensembl chr19:6,228,965...6,229,621

G

claudin 8

CTD Direct Evidence: marker/mechanism

NCBI chr 2:62,012,738...62,017,840
Ensembl chr 2:62,016,228...62,016,905

G

C-type lectin domain containing 11A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:43,780,151...43,782,780

G

collagen type XII alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr17:83,473...205,366
Ensembl chr17:86,992...204,504

G

COPI coat complex subunit gamma 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:51,787,002...51,812,031
Ensembl chr22:51,787,340...51,812,026

G

colony stimulating factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:23,615,107...23,635,399

G

catenin beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949

G

C-X-C motif chemokine ligand 12

CTD Direct Evidence: marker/mechanism

NCBI chr 9:40,005,580...40,020,513
Ensembl chr 9:40,011,439...40,020,494

G

C-X-C motif chemokine ligand 13

CTD Direct Evidence: marker/mechanism

NCBI chr 7:26,101,489...26,108,430
Ensembl chr 7:26,102,714...26,108,690

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

PMID:25162674 PMID:28377727

NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068

G

C-X-C motif chemokine ligand 9

CTD Direct Evidence: marker/mechanism

NCBI chr 7:24,507,121...24,513,830
Ensembl chr 7:24,507,130...24,513,121

G

DEAD-box helicase 3 X-linked

CTD Direct Evidence: marker/mechanism

NCBI chr X:38,513,251...38,539,982
Ensembl chr Y:689,380...706,092

G

DEAD-box helicase 51

CTD Direct Evidence: marker/mechanism

NCBI chr11:127,520,190...127,525,438
Ensembl chr11:127,520,489...127,525,412

G

EGF containing fibulin extracellular matrix protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:50,989,553...51,048,149
Ensembl chr14:50,989,795...51,048,708

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239

G

ecto-NOX disulfide-thiol exchanger 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:105,868,617...106,159,012
Ensembl chr X:105,868,615...106,158,153

G

epoxide hydrolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr25:3,924,396...3,960,264
Ensembl chr25:3,924,606...3,945,535

G

coagulation factor IX

CTD Direct Evidence: marker/mechanism

NCBI chr X:114,618,397...114,650,827
Ensembl chr X:114,618,639...114,651,365

G

ficolin 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:3,255,810...3,264,561

G

FYVE, RhoGEF and PH domain containing 6

CTD Direct Evidence: marker/mechanism

NCBI chr11:90,489,879...90,622,251
Ensembl chr11:90,490,912...90,622,295

G

fibroblast growth factor 18

CTD Direct Evidence: marker/mechanism

NCBI chr23:73,584,223...73,620,881
Ensembl chr23:73,584,766...73,620,069

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

NCBI chr 3:1,779,126...1,811,427
Ensembl chr 3:1,779,192...1,812,784

G

fibronectin 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:101,177,867...101,254,613
Ensembl chr10:101,176,789...101,254,633

G

ferritin heavy chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:11,837,533...11,840,926

G

G protein-coupled receptor 27

CTD Direct Evidence: marker/mechanism

NCBI chr22:32,708,228...32,709,820
Ensembl chr22:32,708,599...32,709,729

G

G protein-coupled receptor 37

CTD Direct Evidence: marker/mechanism

NCBI chr21:93,487,178...93,507,317
Ensembl chr21:93,486,702...93,507,056

G

histone deacetylase 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:125,098,375...125,450,524
Ensembl chr10:125,098,366...125,403,227

G

hephaestin

CTD Direct Evidence: marker/mechanism

NCBI chr X:56,093,899...56,186,284
Ensembl chr X:56,092,407...56,187,931

G

hepatocyte growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504

G

HtrA serine peptidase 1

disease_progression

protein:increased expression:mesothelium (human)

NCBI chr 9:115,197,543...115,250,092
Ensembl chr 9:115,197,566...115,253,919

G

intercellular adhesion molecule 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:57,248,393...57,269,821
Ensembl chr16:57,248,298...57,271,720

G

interferon gamma

CTD Direct Evidence: marker/mechanism

NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473

G

insulin like growth factor 2 mRNA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr21:34,846,383...34,999,579
Ensembl chr21:34,954,129...34,997,439

G

interleukin 12B

CTD Direct Evidence: marker/mechanism

NCBI chr23:61,714,293...61,731,835

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611

G

interleukin 2 receptor subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 9:6,134,961...6,187,731
Ensembl chr 9:6,141,430...6,149,447

G

interleukin 3

CTD Direct Evidence: marker/mechanism

NCBI chr23:34,894,630...34,899,105

G

interleukin 4

CTD Direct Evidence: marker/mechanism

NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

G

integrin linked kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:58,214,630...58,221,770
Ensembl chr 1:58,213,310...58,221,217

G

lysine acetyltransferase 5

CTD Direct Evidence: therapeutic

NCBI chr 1:8,528,097...8,544,512
Ensembl chr 1:8,526,788...8,544,972

G

KIT proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976

G

LIM and calponin homology domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr27:8,656,502...8,994,669
Ensembl chr27:8,653,600...8,994,634

G

glutathione S-transferase Mu 1

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

PMID:7606714 PMID:16697254

NCBI chr20:23,854,969...23,861,634

G

C-C motif chemokine 23

CTD Direct Evidence: marker/mechanism

NCBI chr16:29,488,060...29,493,808

G

C-C motif chemokine 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:29,887,799...29,897,664
Ensembl chr16:29,887,883...29,897,544

G

lymphotoxin alpha

CTD Direct Evidence: marker/mechanism

G

melanoma cell adhesion molecule

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:22784439 PMID:23621518

NCBI chr 1:110,682,631...110,691,717
Ensembl chr 1:110,684,458...110,691,707

G

midkine

CTD Direct Evidence: marker/mechanism

NCBI chr 1:18,945,355...18,948,394
Ensembl chr 1:18,946,378...18,947,134

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093

G

macrophage migration inhibitory factor

CTD Direct Evidence: marker/mechanism

NCBI chr19:7,000,837...7,001,700
Ensembl chr19:7,000,793...7,001,757

G

melan-A

CTD Direct Evidence: marker/mechanism

NCBI chr12:73,595,693...73,613,403
Ensembl chr12:73,595,168...73,613,193

G

mesothelin

CTD Direct Evidence: marker/mechanism

PMID:19190155 PMID:27032653

NCBI chr 5:681,923...690,530
Ensembl chr 5:683,480...690,757

G

myotubularin related protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr16:34,889,637...34,918,101
Ensembl chr16:34,890,764...34,918,263

G

mucin 1, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chr20:8,641,701...8,646,739
Ensembl chr20:8,642,842...8,646,962

G

nanos C2HC-type zinc finger 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:111,823,590...111,825,389

G

N-acetyltransferase 2

susceptibility

CTD Direct Evidence: marker/mechanism

PMID:15993904 PMID:16697254

NCBI chr 8:16,451,144...16,494,961
Ensembl chr 8:16,493,749...16,494,621

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 chr19:12,474,479...12,572,144
Ensembl chr19:12,474,468...12,572,250

G

nerve growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:18,361,795...18,413,987
Ensembl chr20:18,413,108...18,413,833

G

oncostatin M receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:37,661,333...37,756,714
Ensembl chr 4:37,684,090...37,754,473

G

poly(ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr25:3,350,798...3,405,040

G

podoplanin

CTD Direct Evidence: marker/mechanism

NCBI chr20:118,644,060...118,679,508
Ensembl chr20:118,644,051...118,679,311

G

plasmolipin

CTD Direct Evidence: marker/mechanism

NCBI chr 5:43,204,815...43,232,558
Ensembl chr 5:43,204,612...43,232,380

G

protein tyrosine phosphatase receptor type F

CTD Direct Evidence: marker/mechanism

NCBI chr20:89,192,426...89,284,989
Ensembl chr20:89,191,660...89,284,970

G

PYD and CARD domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr 5:27,892,332...27,894,386
Ensembl chr 5:27,889,230...27,893,697

G

Raf-1 proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr22:48,560,270...48,643,537
Ensembl chr22:48,561,161...48,618,020

G

retinoid X receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr12:3,704,129...3,814,707
Ensembl chr12:3,699,923...3,814,678

G

ryanodine receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr25:74,169,024...74,951,371
Ensembl chr25:74,389,122...74,953,451

G

S100 calcium binding protein B

CTD Direct Evidence: marker/mechanism

NCBI chr 2:90,188,820...90,194,986
Ensembl chr 2:90,188,639...90,195,023

G

syndecan 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:87,499,732...87,523,122
Ensembl chr14:87,499,574...87,525,026

G

ssemaphorin 4F

CTD Direct Evidence: marker/mechanism

NCBI chr14:32,597,632...32,625,424
Ensembl chr14:32,596,829...32,625,211

G

serpin family A member 4

CTD Direct Evidence: marker/mechanism

NCBI chr24:72,345,566...72,356,257
Ensembl chr24:72,347,261...72,356,416

G

SET domain containing 2, histone lysine methyltransferase

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

PMID:26928227 PMID:27834213

NCBI chr22:8,421,178...8,567,221
Ensembl chr22:8,420,960...8,567,201

G

SET domain bifurcated histone lysine methyltransferase 1

CTD Direct Evidence: marker/mechanism

G

splicing factor 3b subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:82,901,908...82,952,094
Ensembl chr10:82,899,079...82,952,071

G

sex hormone binding globulin

CTD Direct Evidence: marker/mechanism

NCBI chr16:7,002,380...7,012,170
Ensembl chr16:7,008,682...7,012,764

G

solute carrier family 22 member 5

CTD Direct Evidence: marker/mechanism

NCBI chr23:35,197,909...35,224,466
Ensembl chr23:35,197,985...35,223,137

G

solute carrier family 2 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:77,364,468...77,546,356
Ensembl chr12:77,375,500...77,546,314

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974

G

TBL1X/Y related 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:12,223,404...12,406,165
Ensembl chr15:12,224,226...12,402,908

G

transferrin

CTD Direct Evidence: marker/mechanism

NCBI chr15:56,586,311...56,618,304
Ensembl chr15:56,586,104...56,618,149

G

transcription factor Dp-2

CTD Direct Evidence: marker/mechanism

NCBI chr15:48,483,326...48,691,460
Ensembl chr15:48,508,217...48,675,608

G

transforming growth factor beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr25:11,163,651...11,259,868
Ensembl chr25:11,163,100...11,258,470

G

TNF receptor superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr20:119,656,183...119,736,151
Ensembl chr20:119,657,614...119,715,078

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

PMID:26928227 PMID:37441092

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

TNF receptor associated factor 7

CTD Direct Evidence: marker/mechanism

NCBI chr 5:2,051,247...2,072,763
Ensembl chr 5:2,059,349...2,071,297

G

thioredoxin

CTD Direct Evidence: marker/mechanism

NCBI chr12:29,296,166...29,308,979

G

unc-51 like autophagy activating kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:18,335,095...18,434,031
Ensembl chr16:18,335,235...18,433,578

G

vimentin

CTD Direct Evidence: marker/mechanism

NCBI chr 9:17,183,466...17,191,771
Ensembl chr 9:17,183,388...17,191,829

G

WT1 transcription factor

ClinVar Annotator: match by term: Mesothelioma, malignant

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

NCBI chr 1:32,750,300...32,801,832

G

WW and C2 domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:70,515,573...70,684,973
Ensembl chr23:70,515,173...70,684,971

G

X-ray repair cross complementing 1

treatment

NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094

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 chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740

G

baculoviral IAP repeat containing 5

exacerbates

mRNA:increased expression:pleura, lung (human)

NCBI chr16:70,226,824...70,237,000

G

baculoviral IAP repeat containing 7

ameliorates

mRNA:increased expression:pleura, lung (human)

NCBI chr 2:965,811...970,983

G

cholinergic receptor nicotinic alpha 7 subunit

ameliorates

NCBI chr26:50,554,143...50,686,847
Ensembl chr26:50,551,829...50,686,803

G

colony stimulating factor 1 receptor

mRNA:increased expression:peritoneum�� (human)

NCBI chr23:52,663,290...52,723,652
Ensembl chr23:52,664,076...52,697,304

G

empty spiracles homeobox 2

exacerbates

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

NCBI chr 9:110,347,043...110,353,647
Ensembl chr 9:110,347,379...110,353,643

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

disease_progression

mRNA, protein:increased expression:pleura

NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573

G

interleukin 7 receptor

disease_progression

NCBI chr 4:34,701,724...34,724,241
Ensembl chr 4:34,701,531...34,721,361

G

lysine demethylase 6A

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

NCBI chr X:42,053,272...42,291,013
Ensembl chr X:42,053,336...42,290,526

G

mutL homolog 1

disease_progression

NCBI chr15:2,364,537...2,418,379
Ensembl chr15:2,364,738...2,418,393

G

nuclear receptor coactivator 2

ameliorates

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

NCBI chr 8:65,855,232...66,151,733
Ensembl chr 8:65,855,235...66,040,947

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 chr19:12,474,479...12,572,144
Ensembl chr19:12,474,468...12,572,250

G

RAD21 cohesin complex component

NCBI chr 8:111,486,356...111,515,641
Ensembl chr 8:111,486,048...111,507,729

G

SET domain containing 2, histone lysine methyltransferase

disease_progression

DNA:mutations:CDS:multiple (human)

PMID:26928227 PMID:33691361

RGD:150429647 RGD:150520202

NCBI chr22:8,421,178...8,567,221
Ensembl chr22:8,420,960...8,567,201

G

solute carrier family 7 member 5

disease_progression

protein:increased expression:pleura

PMID:22199264 PMID:24912849

RGD:151361201 RGD:151660330

NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754

G

smoothened, frizzled class receptor

disease_progression

DNA:missense mutations

PMID:23379358 PMID:33209614

RGD:150521620 RGD:150521621

NCBI chr21:97,788,955...97,814,549
Ensembl chr21:97,788,624...97,814,709

G

X-linked inhibitor of apoptosis

ameliorates

mRNA:increased expression:pleura, lung (human)

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 chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342

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 chr16:4,930,643...4,983,378

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 chr12:7,258,932...7,435,658
Ensembl chr12:7,256,648...7,312,734

G

adenosine deaminase

disease_progression

NCBI chr 2:19,167,209...19,200,233

G

ArfGAP with GTPase domain, ankyrin repeat and PH domain 2

disease_progression

NCBI chr11:53,638,722...53,655,826
Ensembl chr11:53,640,079...53,651,913

G

aldehyde dehydrogenase 1 family member A1

protein:increased expression:oral epithelium

NCBI chr12:83,949,529...84,092,452
Ensembl chr12:83,949,399...84,009,003

G

angiopoietin 1

protein:decreased expression:oral mucosa (human)

NCBI chr 8:102,020,346...102,268,443

G

angiopoietin 2

protein:increased expression:oral mucosa (human)

NCBI chr 8:6,283,619...6,345,320
Ensembl chr 8:6,280,584...6,344,729

G

AT-rich interaction domain 2

disease_progression

NCBI chr11:41,933,650...42,117,495
Ensembl chr11:42,028,083...42,118,892

G

actin related protein 2/3 complex subunit 1B

severity

protein:increased expression:oral mucosa (human)

NCBI chr28:13,764,637...13,780,317

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 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520

G

ATPase H+ transporting V1 subunit C1

NCBI chr 8:97,878,970...97,930,552
Ensembl chr 8:97,879,019...97,926,263

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 5:233,520...295,134
Ensembl chr 5:234,060...290,575

G

axin 2

susceptibility
ameliorates
disease_progression

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

PMID:21393552 PMID:33046030

RGD:150530486 RGD:151356656

NCBI chr16:55,874,043...55,906,739
Ensembl chr16:55,874,072...55,907,281

G

alpha-2-glycoprotein 1, zinc-binding

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

PMID:29199150 PMID:33564003

RGD:153350131 RGD:153350144

NCBI chr28:13,104,262...13,120,329
Ensembl chr28:13,104,323...13,120,363

G

BarH like homeobox 2

NCBI chr20:42,743,465...42,757,833
Ensembl chr20:42,743,888...42,749,876

G

BCL2 like 1

mRNA, protein:increased expression:mouth (human)

NCBI chr 2:36,059,024...36,118,332
Ensembl chr 2:36,058,919...36,116,470

G

basic helix-loop-helix family member e41

treatment

Human cells in mouse model

NCBI chr11:25,872,139...25,879,985
Ensembl chr11:25,874,108...25,876,826

G

baculoviral IAP repeat containing 2

protein:increased expression:oral cavity (human)

NCBI chr 1:93,721,449...93,746,638

G

baculoviral IAP repeat containing 3

ameliorates
disease_progression

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

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

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

NCBI chr 1:93,692,239...93,711,905

G

baculoviral IAP repeat containing 5

protein:increased expression:oral cavity (human)

NCBI chr16:70,226,824...70,237,000

G

BMP/retinoic acid inducible neural specific 2

DNA:amplication:oral epithelium

NCBI chr25:51,993,095...52,114,569
Ensembl chr25:51,993,135...52,105,212

G

bone marrow stromal cell antigen 2

disease_progression

NCBI chr 6:15,900,396...15,903,072
Ensembl chr 6:15,900,011...15,903,060

G

Bruton tyrosine kinase

treatment

mRNA:increased expression:oral epithelium (human)

NCBI chr X:89,690,569...89,727,420

G

carbonic anhydrase 12

disease_progression

NCBI chr26:20,162,706...20,221,680
Ensembl chr26:20,162,926...20,224,502

G

calreticulin

exacerbates

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

PMID:23375593 PMID:28599487

RGD:150520158 RGD:150521688

NCBI chr 6:11,618,691...11,624,299
Ensembl chr 6:11,618,396...11,623,792

G

calcium/calmodulin dependent protein kinase II inhibitor 1

NCBI chr20:112,064,718...112,068,505
Ensembl chr20:112,065,581...112,067,256

G

chromobox 2

disease_progression

NCBI chr16:71,741,476...71,749,234
Ensembl chr16:71,741,500...71,751,817

G

C-C motif chemokine ligand 2

susceptibility
disease_progression

DNA:polymorphism,haplotype::2518A>G(human)
associated with social isolation;protein:increased expression:tongue (rat)

PMID:21883707 PMID:33411841

RGD:152998999 RGD:8661694

NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416

G

C-C motif chemokine receptor 2

susceptibility

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

NCBI chr22:7,795,192...7,801,242
Ensembl chr22:7,798,646...7,799,728

G

cell division cycle 73

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

NCBI chr25:36,167,482...36,302,918
Ensembl chr25:36,170,134...36,302,812

G

cyclin dependent kinase inhibitor 1A

susceptibility
disease_progression
no_association

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

PMID:10873097 PMID:15817070 PMID:18251939

RGD:8662371 RGD:8662374 RGD:8662395

NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342

G

ceramide synthase 1

exacerbates

NCBI chr 6:17,331,021...17,351,542

G

chromatin assembly factor 1 subunit B

disease_progression

protein:increased expression:mouth mucosa:

NCBI chr 2:80,379,637...80,409,626
Ensembl chr 2:80,380,425...80,409,687

G

CLPTM1 like

susceptibility

DNA:SNP: :rs402710(human)

NCBI chr 4:1,140,272...1,162,663
Ensembl chr 4:1,140,132...1,162,898

G

catenin delta 1

disease_progression

NCBI chr 1:15,408,581...15,466,457
Ensembl chr 1:15,411,454...15,466,456

G

cytochrome P450 family 1 subfamily A member 1

NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384

G

cytochrome P450 family 24 subfamily A member 1

susceptibility

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

NCBI chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884

G

cytochrome P450 family 2 subfamily E member 1

NCBI chr26:53,390,054...53,403,309
Ensembl chr26:53,390,089...53,404,211

G

death domain associated protein

ameliorates

human cell line in a mouse model

NCBI chr17:38,754,227...38,758,714
Ensembl chr17:38,754,280...38,759,071

G

discoidin domain receptor tyrosine kinase 1

mRNA, protein:increased expression:mouth (human)

NCBI chr17:41,564,271...41,583,404
Ensembl chr17:41,564,992...41,575,682

G

discoidin domain receptor tyrosine kinase 2

severity

NCBI chr20:1,298,636...1,451,872
Ensembl chr20:1,299,574...1,359,674

G

DNA methyltransferase 3 beta

disease_progression

NCBI chr 2:37,128,635...37,176,033
Ensembl chr 2:37,146,538...37,174,570

G

dedicator of cytokinesis 6

disease_progression

NCBI chr 6:10,133,688...10,191,995

G

ephrin B2

protein:increased expression:oral mucosa (human)

NCBI chr 3:84,904,421...84,949,292
Ensembl chr 3:84,904,435...84,949,465

G

epidermal growth factor receptor

NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239

G

erb-b2 receptor tyrosine kinase 2

NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952

G

erb-b2 receptor tyrosine kinase 4

disease_progression

NCBI chr10:97,099,090...98,281,697

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

susceptibility

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

PMID:21697275 PMID:24122997 PMID:26807327

RGD:126779588 RGD:126779606 RGD:126781699

NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573

G

FAT atypical cadherin 1

onset

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

PMID:28435450 PMID:30624777

RGD:151347668 RGD:151347687

NCBI chr 7:132,475,689...132,616,151
Ensembl chr 7:132,483,032...132,616,112

G

fibroblast growth factor receptor 3

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

NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

fibroblast growth factor receptor 4

severity

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

NCBI chr23:79,095,031...79,106,018
Ensembl chr23:79,097,429...79,105,456

G

fms related receptor tyrosine kinase 3

mRNA:decreased expression:oral epithelium (human)

NCBI chr 3:7,117,579...7,222,600
Ensembl chr 3:7,116,947...7,222,849

G

FOS like 2, AP-1 transcription factor subunit

mRNA, protein:increased expression:mouth (human)

NCBI chr14:79,201,128...79,222,363
Ensembl chr14:79,201,649...79,222,373

G

glyceraldehyde-3-phosphate dehydrogenase

NCBI chr11:6,569,029...6,572,877

G

glutathione peroxidase 1

exacerbates

protein:increased expression:oral cavity (human)

NCBI chr22:10,754,976...10,756,617

G

glutathione peroxidase 4

disease_progression

protein:increased expression:oral cavity (human)

NCBI chr 6:873,867...876,225

G

glycogen synthase kinase 3 beta

susceptibility

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

NCBI chr22:60,732,449...61,002,735
Ensembl chr22:60,733,465...60,997,239

G

glutathione S-transferase pi 1

mRNA,protein:decreased expression:mucosa:

NCBI chr 1:6,676,897...6,679,936

G

histone H2AX

disease_progression

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

NCBI chr 1:110,466,692...110,468,776
Ensembl chr 1:110,467,775...110,468,206

G

hes family bHLH transcription factor 1

protein:increased expression:tongue (mouse)

NCBI chr15:88,220,093...88,222,563
Ensembl chr15:88,220,083...88,223,243

G

interleukin 10

susceptibility

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

NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836

G

interleukin 13 receptor subunit alpha 2

NCBI chr X:102,589,947...102,628,853
Ensembl chr X:102,590,045...102,603,260

G

interleukin 1 beta

disease_progression

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

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

interleukin 2

NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969

G

interleukin 6

disease_progression

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

G

Jun proto-oncogene, AP-1 transcription factor subunit

mRNA, protein:increased expression:mouth (human)

NCBI chr20:74,204,481...74,207,835
Ensembl chr20:74,205,542...74,206,546

G

JunB proto-oncogene, AP-1 transcription factor subunit

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

NCBI chr 6:11,479,108...11,480,942
Ensembl chr 6:11,479,407...11,480,450

G

lysine methyltransferase 2D

severity

NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423

G

glutathione S-transferase Mu 1

severity

DNA:deletion: : (human)

PMID:14662415 PMID:22213390

RGD:12792245 RGD:14700962

NCBI chr20:23,854,969...23,861,634

G

cadherin-1

disease_progression

NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541

G

microcephalin 1

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

NCBI chr 8:6,190,272...6,425,683
Ensembl chr 8:6,190,047...6,425,131

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression, altered expression:mouth mucosa:

NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093

G

methylenetetrahydrofolate reductase

susceptibility

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

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

G

NLR family apoptosis inhibitory protein

protein:increased expression:oral cavity (human)

NCBI chr 4:65,693,044...65,742,527

G

notch receptor 1

protein:increased expression:tongue (mouse)

NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585

G

platelet and endothelial cell adhesion molecule 1

protein:decreased expression:oral mucosa (human)

NCBI chr16:56,863,763...56,947,479
Ensembl chr16:56,880,934...56,950,999

G

plasminogen activator, urokinase

severity

protein:increased expression:oral mucosa (rat)

NCBI chr 9:57,452,904...57,459,345
Ensembl chr 9:57,452,761...57,459,286

G

phospholipase C gamma 1

disease_progression
ameliorates

protein:decreased expression:oral cavity (human)

PMID:25085076 PMID:26464646

RGD:11526681 RGD:151356936

NCBI chr 2:22,599,547...22,638,394

G

peroxiredoxin 2

protein:increased expression:saliva

NCBI chr 6:11,484,452...11,489,067
Ensembl chr 6:11,481,784...11,489,051

G

phosphatase and tensin homolog

disease_progression

protein:increased expression:oral epithelium (human)

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

prostaglandin I2 synthase

mRNA,protein:decreased expression:mouth mucosa (human)

NCBI chr 2:14,420,318...14,484,667
Ensembl chr 2:14,441,983...14,488,264

G

protein tyrosine phosphatase non-receptor type 13

treatment

NCBI chr 7:34,974,028...35,200,214
Ensembl chr 7:34,974,082...35,200,293

G

RAD21 cohesin complex component

exacerbates

mRNA:decreased expression:oral cavity (human)

NCBI chr 8:111,486,356...111,515,641
Ensembl chr 8:111,486,048...111,507,729

G

RELA proto-oncogene, NF-kB subunit

protein:increased expression:mouth (human)

NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516

G

serpin family E member 1

disease_progression
severity

protein:increased expression:oral mucosa (rat)

PMID:15878520 PMID:24999729

RGD:13208508 RGD:8547730

NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202

G

S-phase kinase associated protein 2

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

NCBI chr 4:35,009,114...35,040,518
Ensembl chr 4:35,009,076...35,042,632

G

solute carrier family 7 member 5

severity

NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754

G

SRY-box transcription factor 2

protein:increased expression:oral epithelium

NCBI chr15:7,673,581...7,676,812
Ensembl chr15:7,674,867...7,675,826

G

telomerase reverse transcriptase

susceptibility

DNA:SNPs: :rs2736100,rs2736098(human)

NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468

G

tet methylcytosine dioxygenase 2

protein:decreased expression:oral epithelium (human)

NCBI chr 7:53,193,824...53,326,813
Ensembl chr 7:53,193,941...53,326,942

G

tumor necrosis factor

disease_progression

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

G

tumor protein p53

DNA:missense mutations: :multiple
protein:increased expression:mouth (human)

PMID:27283772 PMID:34111459

RGD:14995497 RGD:153344573

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

transthyretin

protein:increased expression:saliva (human)

NCBI chr18:49,124,302...49,131,495
Ensembl chr18:49,124,121...49,131,399

G

vascular endothelial growth factor A

protein:increased expression:oral mucosa (human)

NCBI chr17:28,377,959...28,394,508

G

Wnt family member 11

susceptibility

DNA:SNP:exon: A>G (rs1533767) (human)

NCBI chr 1:67,393,975...67,427,247
Ensembl chr 1:67,399,074...67,418,509

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 chr20:95,232,114...95,255,160
Ensembl chr20:95,237,071...95,255,932

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 chr25:11,163,651...11,259,868
Ensembl chr25:11,163,100...11,258,470

papillary carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KISS1 receptor

NCBI chr 6:666,386...670,833
Ensembl chr 6:667,210...670,563

G

vascular endothelial growth factor C

disease_progression

associated with thyroid diseases;mRNA:increased expression:thyroid gland:

NCBI chr 7:122,772,539...122,893,486
Ensembl chr 7:122,772,182...122,893,512

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 1:93,692,239...93,711,905

G

baculoviral IAP repeat containing 5

disease_progression

mRNA:increased expression:kidney (human)

NCBI chr16:70,226,824...70,237,000

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 chr21:109,495,525...109,690,261

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1

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

NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637

G

leucine rich repeat containing 56

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

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

NCBI chr 1:352,131...370,276
Ensembl chr 1:355,982...369,633

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 chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093

G

proline rich mitotic checkpoint control factor

NCBI chr20:7,068,711...7,099,745
Ensembl chr20:7,068,333...7,099,339

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 chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428

G

X-linked inhibitor of apoptosis

exacerbates

mRNA:increased expression:kidney (human)

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 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism

PMID:10430900 PMID:11684723 PMID:12151359

RGD:8662351 RGD:8662432

NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342

G

epidermal growth factor receptor

susceptibility

CTD Direct Evidence: marker/mechanism

PMID:8603490 PMID:10943841

NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239

G

erb-b2 receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637

G

mitogen-activated protein kinase kinase 4

NCBI chr16:11,366,610...11,485,411
Ensembl chr16:11,366,751...11,486,125

G

matrix metallopeptidase 2

treatment

associated with Skin Neoplasms

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

G

NAD(P)H quinone dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:57,676,547...57,695,434
Ensembl chr 5:57,675,981...57,716,599

G

ornithine decarboxylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:97,173,338...97,182,253

G

phospholipase A2 group IVA

associated with Bladder Neoplasms;mRNA:increased expression:bladder

NCBI chr25:42,443,480...42,590,895
Ensembl chr25:42,443,385...42,590,431

G

prostaglandin E synthase

mRNA:increased expression:urinary bladder

NCBI chr12:8,393,462...8,408,441
Ensembl chr12:8,393,550...8,408,435

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:12151359 PMID:16144915

NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974

G

small proline rich protein 1A

CTD Direct Evidence: marker/mechanism

NCBI chr20:10,746,202...10,751,822
Ensembl chr20:10,746,517...10,746,786

G

transforming growth factor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr14:36,545,641...36,654,213
Ensembl chr14:36,545,875...36,648,237

G

transforming growth factor beta 1

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:7954410 PMID:20172950

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

G

tyrosinase

treatment

NCBI chr 1:80,330,051...80,444,646

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 chr13:21,901,153...21,966,227
Ensembl chr13:21,919,280...21,967,117

G

large tumor suppressor kinase 2

ClinVar Annotator: match by term: Malignant peritoneal mesothelioma

NCBI chr 3:124,520...215,426

G

MDS1 and EVI1 complex locus

ClinVar Annotator: match by term: Malignant peritoneal mesothelioma

NCBI chr15:19,726,423...20,320,832
Ensembl chr15:20,256,384...20,320,834

G

TNF receptor associated factor 7

DNA:missense mutations:multiple

NCBI chr 5:2,051,247...2,072,763
Ensembl chr 5:2,059,349...2,071,297

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 chr 4:1,140,272...1,162,663
Ensembl chr 4:1,140,132...1,162,898

seborrheic keratosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

annexin A1

NCBI chr12:84,207,818...84,226,438
Ensembl chr12:84,207,820...84,226,562

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 chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

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 chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316

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 chr10:113,815,099...113,836,562
Ensembl chr10:113,832,573...113,835,736

G

clusterin

NCBI chr 8:25,704,441...25,721,789
Ensembl chr 8:25,703,257...25,721,789

G

fibroblast growth factor 10

protein:increased expression:skin (mouse)

NCBI chr 4:43,080,387...43,163,355
Ensembl chr 4:43,081,831...43,163,432

G

neuregulin 1

DNA:hypermethylation:

NCBI chr 8:29,745,984...30,862,140
Ensembl chr 8:30,635,803...30,856,487

G

toll like receptor 2

protein:increased expression,altered expression:cytoplasm,membrane, nucleus:

NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795

skin squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CCCTC-binding factor

DNA:mutations:multiple (human)

NCBI chr 5:59,806,753...59,889,534
Ensembl chr 5:59,806,551...59,880,049

G

DEAD-box helicase 5

protein:increased expression:foreskin (human)

NCBI chr16:56,766,669...56,773,767
Ensembl chr16:56,767,186...56,773,464

G

FAT atypical cadherin 1

disease_progression

associated with Neoplasm Metastasis

NCBI chr 7:132,475,689...132,616,151
Ensembl chr 7:132,483,032...132,616,112

G

fibroblast growth factor 10

protein:increased expression:skin (mouse)

NCBI chr 4:43,080,387...43,163,355
Ensembl chr 4:43,081,831...43,163,432

G

FYN proto-oncogene, Src family tyrosine kinase

NCBI chr13:61,988,265...62,218,756
Ensembl chr13:62,159,874...62,219,672

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 chr26:42,620,401...42,631,932
Ensembl chr26:42,621,084...42,631,822

G

phosphatase and tensin homolog

ameliorates

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

Sporadic Papillary Renal Cell Carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MYC proto-oncogene, bHLH transcription factor

severity

protein:increased expression:kidney (human)
mRNA:increased expression:renal cortex (human)

PMID:17409424 PMID:19384955

RGD:7240562 RGD:7240563

NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384

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 chr23:59,867,949...59,966,873
Ensembl chr23:59,867,596...59,966,802

G

ADAMTS like 3

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr29:1,592,205...1,974,406
Ensembl chr29:1,592,300...1,972,722

G

actin filament associated protein 1 like 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:107,164,687...107,274,433
Ensembl chr 9:107,162,963...107,273,307

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698

G

annexin A1

CTD Direct Evidence: marker/mechanism

PMID:8919037 PMID:15274141

NCBI chr12:84,207,818...84,226,438
Ensembl chr12:84,207,820...84,226,562

G

annexin A2

CTD Direct Evidence: marker/mechanism

NCBI chr26:23,100,000...23,147,687
Ensembl chr26:23,099,992...23,145,457

G

annexin A5

CTD Direct Evidence: marker/mechanism

NCBI chr 7:68,940,365...68,970,324
Ensembl chr 7:68,940,304...68,970,811

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067

G

apolipoprotein B mRNA editing enzyme catalytic subunit 3B

CTD Direct Evidence: marker/mechanism

G

aquaporin 3 (Gill blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr12:46,817,790...46,825,154

G

amphiregulin

CTD Direct Evidence: therapeutic

NCBI chr 7:22,979,574...22,990,179
Ensembl chr 7:22,980,249...22,990,162

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520

G

BCL2 apoptosis regulator

disease_progression

Protein:increased expression:tongue;associated with mouth neoplasms

NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895

G

baculoviral IAP repeat containing 5

CTD Direct Evidence: marker/mechanism

NCBI chr16:70,226,824...70,237,000

G

caveolin 1

NCBI chr21:85,222,724...85,258,562
Ensembl chr21:85,222,879...85,258,627

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416

G

cyclin D1

susceptibility

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

PMID:18548202 PMID:26432044

NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357

G

CD163 molecule

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr11:7,501,562...7,536,332
Ensembl chr11:7,501,150...7,536,295

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 chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342

G

CCAAT enhancer binding protein alpha

CTD Direct Evidence: marker/mechanism

PMID:17510391 PMID:21346772

NCBI chr 6:28,342,506...28,345,759
Ensembl chr 6:28,343,907...28,344,977

G

complement factor H

mRNA:increased expression:skin

NCBI chr25:32,557,697...32,744,763

G

cholinergic receptor nicotinic alpha 3 subunit

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr26:4,721,145...4,747,694
Ensembl chr26:4,722,489...4,737,164

G

cholinergic receptor nicotinic alpha 5 subunit

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr26:4,747,734...4,779,231
Ensembl chr26:4,749,766...4,776,822

G

claudin 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:84,518,464...84,533,587
Ensembl chr15:84,516,478...84,532,969

G

clusterin

severity

NCBI chr 8:25,704,441...25,721,789
Ensembl chr 8:25,703,257...25,721,789

G

CREB binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943

G

crystallin alpha B

CTD Direct Evidence: marker/mechanism

NCBI chr 1:103,258,715...103,263,274
Ensembl chr 1:103,257,347...103,261,990

G

casein kinase 2 alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:55,982,259...56,047,023

G

casein kinase 2 alpha 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:44,093,320...44,133,352
Ensembl chr 5:44,093,215...44,133,335

G

casein kinase 2 beta

CTD Direct Evidence: marker/mechanism

NCBI chr17:40,354,520...40,359,136
Ensembl chr17:40,352,367...40,358,401

G

cytotoxic T-lymphocyte associated protein 4

susceptibility

DNA:SNP: :rs3087243(human)

NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344

G

cortactin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:4,139,045...4,176,962
Ensembl chr 1:4,137,814...4,176,446

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068

G

cytochrome P450 family 1 subfamily A member 2

CTD Direct Evidence: marker/mechanism

NCBI chr26:8,727,996...8,733,254

G

cytochrome P450 family 1 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:69,318,713...69,327,277
Ensembl chr14:69,319,495...69,324,157

G

dentin sialophosphoprotein

CTD Direct Evidence: marker/mechanism

NCBI chr 7:35,993,669...35,999,443

G

dual specificity phosphatase 1

mRNA:increased expression:saliva

NCBI chr23:74,931,421...74,934,510
Ensembl chr23:74,929,863...74,934,532

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239

G

early growth response 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr23:41,139,636...41,143,598
Ensembl chr23:41,140,065...41,142,374

G

enolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:122,884,846...122,902,669
Ensembl chr20:122,884,727...122,903,372

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979

G

ERCC excision repair 2, TFIIH core complex helicase subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073

G

family with sequence similarity 13 member A

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 7:37,086,367...37,458,649
Ensembl chr 7:37,085,592...37,406,913

G

fibroblast growth factor 7

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

NCBI chr26:33,802,349...33,867,743
Ensembl chr26:33,802,328...33,867,333

G

fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism

PMID:22286583 PMID:27794399

NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508

G

fibroblast growth factor receptor 2

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

NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704

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 chr22:21,006,010...22,474,056

G

fms related receptor tyrosine kinase 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 3:7,412,506...7,608,122
Ensembl chr 3:7,412,172...7,607,967

G

forkhead box A1

CTD Direct Evidence: marker/mechanism

NCBI chr24:14,397,759...14,403,078
Ensembl chr24:14,396,702...14,403,094

G

forkhead box P2

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr21:82,799,147...83,392,568
Ensembl chr21:83,129,308...83,389,483

G

glyceraldehyde-3-phosphate dehydrogenase

CTD Direct Evidence: marker/mechanism

NCBI chr11:6,569,029...6,572,877

G

glutathione peroxidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:10,754,976...10,756,617

G

glutathione S-transferase pi 1

NCBI chr 1:6,676,897...6,679,936

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556

G

histone deacetylase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:59,873,248...59,904,542
Ensembl chr13:59,873,767...59,905,742

G

hepatocyte growth factor

CTD Direct Evidence: therapeutic

NCBI chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504

G

HRas proto-oncogene, GTPase

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

PMID:8453633 PMID:24224046 PMID:25125259

NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637

G

heat shock protein family A (Hsp70) member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:114,447,348...114,452,693
Ensembl chr 1:114,446,544...114,451,562

G

heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr28:10,442,530...10,443,804
Ensembl chr28:10,442,398...10,443,855

G

5-hydroxytryptamine receptor 4

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr23:51,087,430...51,279,915
Ensembl chr23:51,087,285...51,182,200

G

interferon alpha 2

CTD Direct Evidence: therapeutic

NCBI chr12:58,468,018...58,469,825

G

interleukin 2

treatment

NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

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 chr 3:88,935,764...88,943,887
Ensembl chr 3:88,937,297...88,943,046

G

inositol polyphosphate-5-phosphatase A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:125,137,901...125,374,995
Ensembl chr 9:125,204,017...125,375,565

G

interleukin 1 receptor associated kinase 1

disease_progression

NCBI chr X:128,433,462...128,443,126
Ensembl chr X:128,433,465...128,443,043

G

integrin subunit alpha 5

CTD Direct Evidence: marker/mechanism

NCBI chr11:50,507,673...50,535,358
Ensembl chr11:50,510,714...50,535,328

G

integrin subunit beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:32,201,030...32,258,247
Ensembl chr 9:32,202,204...32,258,154

G

involucrin

CTD Direct Evidence: marker/mechanism

NCBI chr20:10,809,528...10,814,646

G

kinase insert domain receptor

NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771

G

KIT ligand

Squamous cell carcinoma of the digit

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

NCBI chr11:83,856,149...83,943,095
Ensembl chr11:83,856,157...83,943,083

G

KLF transcription factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr 3:52,188,139...52,210,882

G

lysine methyltransferase 2C

severity

DNA:mutations:multiple (human)

NCBI chr21:120,299,295...120,587,843
Ensembl chr21:120,301,188...120,587,137

G

kinetochore localized astrin (SPAG5) binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr26:42,620,401...42,631,932
Ensembl chr26:42,621,084...42,631,822

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

PMID:19435901 PMID:25125259

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

keratin 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:48,810,671...48,817,436
Ensembl chr11:48,810,677...48,816,363

G

keratin 10

CTD Direct Evidence: marker/mechanism

NCBI chr16:65,361,893...65,367,634
Ensembl chr16:65,362,903...65,367,941

G

leucine rich repeat containing G protein-coupled receptor 6

CTD Direct Evidence: marker/mechanism

NCBI chr25:27,093,242...27,218,694
Ensembl chr25:27,092,717...27,215,943

G

glutathione S-transferase Mu 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:23,854,969...23,861,634

G

metallothionein-1X

CTD Direct Evidence: marker/mechanism

NCBI chr 5:42,637,027...42,638,751
Ensembl chr 5:42,637,113...42,638,611

G

cadherin-1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541

G

nucleoside diphosphate kinase A

severity

protein:decreased expression:tumor (human)

NCBI chr16:42,186,039...42,195,608
Ensembl chr16:42,185,260...42,195,616

G

keratin, type I cytoskeletal 14

CTD Direct Evidence: marker/mechanism

NCBI chr16:64,654,988...64,660,327
Ensembl chr16:64,655,807...64,660,319

G

loricrin cornified envelope precursor protein

CTD Direct Evidence: marker/mechanism

NCBI chr20:10,494,570...10,497,944

G

leukotriene A4 hydrolase

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

NCBI chr11:91,371,383...91,413,396
Ensembl chr11:91,371,383...91,406,542

G

leucine zipper tumor suppressor 1

esophageal squamous cell carcinoma, OMIM:133239

NCBI chr 8:18,315,243...18,377,492
Ensembl chr 8:18,315,130...18,324,345

G

mal, T cell differentiation protein

CTD Direct Evidence: marker/mechanism

NCBI chr14:66,521...92,476
Ensembl chr14:66,610...93,588

G

mesencephalic astrocyte derived neurotrophic factor

susceptibility

NCBI chr22:12,725,718...12,730,377
Ensembl chr22:12,726,308...12,730,587

G

mitogen-activated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:4,246,144...4,352,648
Ensembl chr19:4,246,122...4,353,325

G

mitogen-activated protein kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:26,536,471...26,545,666
Ensembl chr 5:26,536,532...26,546,461

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093

G

mutL homolog 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr15:2,364,537...2,418,379
Ensembl chr15:2,364,738...2,418,393

G

matrix metallopeptidase 2

protein:increased expression:nasal mucosa

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

G

matrix metallopeptidase 9

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

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

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

NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712

G

mitochondrial ribosomal protein L13

CTD Direct Evidence: marker/mechanism

NCBI chr 8:114,973,598...115,023,276
Ensembl chr 8:114,973,210...115,023,248

G

membrane spanning 4-domains A1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:13,343,647...13,358,639
Ensembl chr 1:13,345,253...13,358,547

G

methylenetetrahydrofolate reductase

susceptibility

DNA:transition:cds:g.677C>T (human)

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

G

mucin 5AC, oligomeric mucus/gel-forming

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 1:981,515...1,018,242

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384

G

nuclear receptor coactivator 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:16,270,218...16,423,381
Ensembl chr 2:16,273,717...16,423,318

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339

G

NK2 homeobox 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr24:13,274,118...13,317,533
Ensembl chr24:13,310,846...13,317,056

G

NLR family pyrin domain containing 3

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr25:84,431,436...84,463,387
Ensembl chr25:84,434,527...84,463,249

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:13,712,140...13,871,777
Ensembl chr20:13,712,292...13,871,784

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:13,762,570...13,803,676
Ensembl chr 6:13,761,512...13,793,359

G

notch receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr17:39,806,864...39,837,101
Ensembl chr17:39,808,035...39,837,365

G

OCA2 melanosomal transmembrane protein

susceptibility

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

NCBI chr26:54,022,346...54,429,991
Ensembl chr26:54,039,197...54,352,774

G

8-oxoguanine DNA glycosylase

NCBI chr22:45,757,414...45,763,690

G

phosphoglycerate mutase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:90,581,593...90,585,054

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316

G

plasminogen activator, urokinase

severity

mRNA:increased expression:oral cavity (human)

NCBI chr 9:57,452,904...57,459,345
Ensembl chr 9:57,452,761...57,459,286

G

peptidylprolyl isomerase A

CTD Direct Evidence: marker/mechanism

NCBI chr21:13,876,099...13,883,546
Ensembl chr21:13,876,099...13,883,462

G

protein kinase, DNA-activated, catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 8:43,915,226...44,119,547
Ensembl chr 8:43,914,636...44,119,541

G

phosphoribosyl transferase domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:24,568,867...24,678,020
Ensembl chr 9:24,568,692...24,677,550

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

prostaglandin E receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:13,131,328...13,134,457
Ensembl chr 6:13,131,424...13,133,190

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:16543248 PMID:18202791

NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429

G

protein tyrosine kinase 2

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:21401805 PMID:25199511

NCBI chr 8:134,897,511...135,246,300

G

protein tyrosine phosphatase non-receptor type 11

CTD Direct Evidence: marker/mechanism

NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637

G

PYD and CARD domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr 5:27,892,332...27,894,386
Ensembl chr 5:27,889,230...27,893,697

G

receptor for activated C kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:82,800,211...82,805,769
Ensembl chr23:82,798,085...82,805,936

G

RAD52 homolog, DNA repair protein

CTD Direct Evidence: marker/mechanism

NCBI chr11:893,984...989,119
Ensembl chr11:895,292...927,430

G

retinoic acid receptor beta

CTD Direct Evidence: marker/mechanism

NCBI chr15:69,851,447...70,266,215
Ensembl chr15:70,096,117...70,264,905

G

RAS p21 protein activator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:81,249,851...81,371,486
Ensembl chr 4:81,249,805...81,370,453

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546

G

Ras and Rab interactor 3

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr24:70,261,693...70,447,126
Ensembl chr24:70,303,459...70,450,059

G

receptor interacting serine/threonine kinase 1

NCBI chr17:69,065,509...69,117,825
Ensembl chr17:69,063,047...69,105,348

G

ring finger protein 168

CTD Direct Evidence: marker/mechanism

NCBI chr15:90,702,740...90,735,279
Ensembl chr15:90,702,765...90,737,687

G

ring finger protein 6

NCBI chr 3:5,461,053...5,471,268
Ensembl chr 3:5,462,126...5,468,555

G

ROS proto-oncogene 1, receptor tyrosine kinase

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr13:56,412,451...56,561,382
Ensembl chr13:56,413,298...56,562,503

G

retinoid isomerohydrolase RPE65

mRNA:decreased expression:skin (human)

NCBI chr20:64,662,777...64,684,178
Ensembl chr20:64,664,358...64,683,211

G

SEM1 26S proteasome complex subunit

CTD Direct Evidence: marker/mechanism

NCBI chr21:52,342,382...52,364,110
Ensembl chr21:52,342,397...52,364,103

G

serpin family A member 1

ClinVar Annotator: match by term: Squamous cell carcinoma

PMID:27296815 PMID:27993330 PMID:36367950

NCBI chr24:72,158,521...72,171,139
Ensembl chr24:72,156,784...72,163,500

G

stratifin

CTD Direct Evidence: marker/mechanism

NCBI chr20:105,902,481...105,904,313
Ensembl chr20:105,902,974...105,903,720

G

sirtuin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:25,740...49,471
Ensembl chr 1:26,927...48,944

G

solute carrier family 45 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:33,178,614...33,219,664
Ensembl chr 4:33,179,349...33,219,028

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:12543247 PMID:15274141

NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974

G

SRY-box transcription factor 2

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

PMID:19801978 PMID:23518916

NCBI chr15:7,673,581...7,676,812
Ensembl chr15:7,674,867...7,675,826

G

small proline rich protein 1A

CTD Direct Evidence: marker/mechanism

NCBI chr20:10,746,202...10,751,822
Ensembl chr20:10,746,517...10,746,786

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 chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136

G

telomeric repeat binding factor 1

NCBI chr 8:68,608,830...68,647,220
Ensembl chr 8:68,608,844...68,648,171

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 7:53,193,824...53,326,813
Ensembl chr 7:53,193,941...53,326,942

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

G

TIAM Rac1 associated GEF 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:60,573,187...61,015,599
Ensembl chr 2:60,865,819...61,017,191

G

toll like receptor 4

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515

G

TNF receptor superfamily member 1A

NCBI chr11:6,364,544...6,378,880
Ensembl chr11:6,364,330...6,378,902

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 chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

tumor protein p63

CTD Direct Evidence: marker/mechanism

NCBI chr15:83,861,489...84,126,675

G

triosephosphate isomerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:6,900,762...6,904,188
Ensembl chr11:6,900,787...6,906,787

G

TSC complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,195,604...5,249,042
Ensembl chr12:5,195,675...5,244,157

G

TSC complex subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:1,946,534...1,985,168
Ensembl chr 5:1,946,927...1,987,682

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr18:60,030,640...60,043,297
Ensembl chr18:60,030,658...60,041,856

G

ubiquitin like modifier activating enzyme 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:44,377,765...44,402,378
Ensembl chr X:44,385,940...44,405,051

G

ubiquitin like modifier activating enzyme 7

CTD Direct Evidence: marker/mechanism

NCBI chr22:11,208,744...11,217,834
Ensembl chr22:11,207,417...11,217,734

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr22:56,081,897...56,097,164
Ensembl chr22:56,082,103...56,097,105

G

voltage dependent anion channel 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:56,141,153...56,160,378
Ensembl chr 9:56,136,756...56,157,173

G

vitamin D receptor

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

PMID:16950800 PMID:22213323

RGD:8158063 RGD:8158080

NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

PMID:15956251 PMID:26432044

NCBI chr17:28,377,959...28,394,508

G

WW domain containing oxidoreductase

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

PMID:11956080 PMID:17575124

NCBI chr 5:63,580,049...64,698,212
Ensembl chr 5:63,580,741...63,916,157

G

XPC complex subunit, DNA damage recognition and repair factor

CTD Direct Evidence: marker/mechanism

NCBI chr22:50,088,019...50,121,584
Ensembl chr22:50,085,353...50,121,542

G

X-ray repair cross complementing 5

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

NCBI chr10:101,952,909...102,051,059
Ensembl chr10:101,953,067...102,049,964

G

X-ray repair cross complementing 6

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

NCBI chr19:24,160,459...24,204,237
Ensembl chr19:24,160,483...24,206,320

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 chr 2:19,167,209...19,200,233

G

adiponectin, C1Q and collagen domain containing

disease_progression

protein:decreased expression:serum

NCBI chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391

G

BCL2 apoptosis regulator

protein:increased expression:tongue (human)

NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895

G

baculoviral IAP repeat containing 2

exacerbates

protein:increased expression:tongue (human)

NCBI chr 1:93,721,449...93,746,638

G

BMP/retinoic acid inducible neural specific 3

mRNA:decreased expression:tongue:

NCBI chr25:38,950,219...39,340,920
Ensembl chr25:39,147,423...39,340,564

G

caveolin 2

protein:increased expression:mucosa of tongue

NCBI chr21:85,197,452...85,206,521
Ensembl chr21:85,197,537...85,206,588

G

cyclin D1

protein:increased expression:tongue (human)

NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357

G

cyclin dependent kinase inhibitor 1A

disease_progression

NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342

G

C-X-C motif chemokine ligand 8

mRNA:increased expression:head, neck (human)

NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068

G

epidermal growth factor receptor

treatment

NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239

G

erb-b2 receptor tyrosine kinase 3

disease_progression

NCBI chr11:52,020,912...52,043,809
Ensembl chr11:52,021,058...52,044,028

G

erb-b2 receptor tyrosine kinase 4

severity

NCBI chr10:97,099,090...98,281,697

G

FA complementation group B

NCBI chr X:13,321,304...13,352,368
Ensembl chr X:13,321,527...13,342,478

G

FA complementation group C

NCBI chr12:107,780,087...107,991,828
Ensembl chr12:107,845,135...107,991,237

G

FA complementation group F

mRNA:decreased expression:tongue:

NCBI chr 1:42,377,150...42,381,653
Ensembl chr 1:42,378,883...42,380,007

G

FA complementation group G

NCBI chr12:45,537,817...45,544,038
Ensembl chr12:45,538,303...45,543,766

G

FA complementation group I

NCBI chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552

G

FA complementation group L

NCBI chr14:48,725,447...48,803,892
Ensembl chr14:48,725,541...48,805,356

G

FA complementation group M

NCBI chr24:22,255,750...22,327,191
Ensembl chr24:22,256,236...22,329,609

G

Fos proto-oncogene, AP-1 transcription factor subunit

mRNA,protein:increased expression:tongue (human)

NCBI chr24:52,497,465...52,501,161
Ensembl chr24:52,497,521...52,501,514

G

FosB proto-oncogene, AP-1 transcription factor subunit

protein:increased expression:tongue (human)

NCBI chr 6:38,916,039...38,924,129

G

FOS like 1, AP-1 transcription factor subunit

protein:decreased expression:tongue (human)

NCBI chr 1:8,356,263...8,365,606
Ensembl chr 1:8,356,836...8,364,918

G

FOS like 2, AP-1 transcription factor subunit

mRNA,protein:increased expression:tongue (human)

NCBI chr14:79,201,128...79,222,363
Ensembl chr14:79,201,649...79,222,373

G

far upstream element binding protein 1

exacerbates

mRNA, protein:increased expression:tongue (human)

NCBI chr20:55,194,681...55,233,666
Ensembl chr20:55,194,743...55,230,277

G

gap junction protein alpha 1

protein:decreased expression:epithelium

NCBI chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339

G

hepatocyte growth factor

protein:increased expression:tongue:

NCBI chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504

G

interferon gamma

disease_progression

protein:decreased expression:serum:

NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473

G

interleukin 10

disease_progression

protein:increased expression:serum:

NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836

G

interleukin 1 receptor like 1

disease_progression

NCBI chr14:5,966,551...6,020,391
Ensembl chr14:6,005,061...6,020,265

G

interleukin 2

protein:decreased expression:serum:

NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969

G

interleukin 33

disease_progression

NCBI chr12:73,235,585...73,283,665
Ensembl chr12:73,237,406...73,252,436

G

Janus kinase 3

disease_progression

NCBI chr 6:16,301,760...16,323,343
Ensembl chr 6:16,300,525...16,322,859

G

Jun proto-oncogene, AP-1 transcription factor subunit

mRNA,protein:increased expression:tongue (human)

NCBI chr20:74,204,481...74,207,835
Ensembl chr20:74,205,542...74,206,546

G

JunB proto-oncogene, AP-1 transcription factor subunit

protein:increased expression:tongue (human)

NCBI chr 6:11,479,108...11,480,942
Ensembl chr 6:11,479,407...11,480,450

G

JunD proto-oncogene, AP-1 transcription factor subunit

protein:increased expression:tongue (human)

NCBI chr 6:16,754,553...16,756,458
Ensembl chr 6:16,755,247...16,756,290

G

kinase insert domain receptor

treatment

NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771

G

mitogen-activated protein kinase kinase 4

mRNA:increased expression:tongue squamous epithelium (human)

NCBI chr16:11,366,610...11,485,411
Ensembl chr16:11,366,751...11,486,125

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression:tongue:

NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093

G

matrix metallopeptidase 9

protein:increased expression:tongue (human)

NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712

G

microtubule associated scaffold protein 1

disease_progression

NCBI chr 8:15,739,220...15,899,834
Ensembl chr 8:15,741,294...15,853,293

G

solute carrier family 1 member 5

disease_progression

NCBI chr 6:40,139,417...40,150,312

G

solute carrier family 3 member 2

disease_progression

NCBI chr 1:11,011,351...11,050,494
Ensembl chr 1:11,008,120...11,050,298

G

solute carrier family 7 member 11

severity

NCBI chr 7:85,149,810...85,225,061
Ensembl chr 7:85,154,068...85,225,144

G

solute carrier family 7 member 5

disease_progression

NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754

G

SRY-box transcription factor 2

disease_progression

NCBI chr15:7,673,581...7,676,812
Ensembl chr15:7,674,867...7,675,826

G

tumor protein p53

protein:increased expression:tongue:

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

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 chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

vulva squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 25A

protein:increased expression:vulva

NCBI chr22:9,534,114...9,564,927
Ensembl chr22:9,534,053...9,564,741

G

cell division cycle 25B

disease_progression

protein:increased expression:vulva

NCBI chr 2:34,482,709...34,493,737
Ensembl chr 2:34,483,771...34,494,071

G

cell division cycle 25C

disease_progression

protein:increased expression:vulva

NCBI chr23:40,960,154...41,013,016
Ensembl chr23:40,960,572...41,006,984

G

stratifin

DNA, mRNA:hypermethylation, decreased expression:vulva

NCBI chr20:105,902,481...105,904,313
Ensembl chr20:105,902,974...105,903,720

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 chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309

Term paths to the root

Path 1
Term	Annotations
disease	15416
disease of cellular proliferation	7317
benign neoplasm	2092
cell type benign neoplasm	1840
squamous cell neoplasm	633
acanthoma +	5
papillary carcinoma +	12
papilloma +	65
squamous cell carcinoma +	595
verrucous carcinoma +	0

paths to the root