Term: Neoplasm of head and neck
Accession: HP:0012288
browse the term
Definition: A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx.
Synonyms: exact_synonym: Head and neck tumor; Head and neck tumour
narrow_synonym: head and neck malignant neoplasia
related_synonym: Head and neck cancer
xref: EFO:0006859 ; SNOMEDCT_US:255055008; SNOMEDCT_US:255056009; UMLS:C0018671; UMLS:C0278996
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CDKN2A
cyclin dependent kinase inhibitor 2A
IAGP
HPO
ORPHA:524
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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CHEK2
checkpoint kinase 2
IAGP
HPO
ORPHA:524
NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
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CTNNB1
catenin beta 1
IAGP
HPO
ORPHA:91414
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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DCDC1
doublecortin domain containing 1
IAGP
ClinVar Annotator: match by term: Head and neck cancer
ClinVar
PMID:25741868 PMID:28492532 PMID:32266149
NCBI chr11:30,863,603...31,369,739
Ensembl chr11:30,830,369...31,369,810
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EGFR
epidermal growth factor receptor
IAGP
ClinVar Annotator: match by term: Neoplasm of head and neck
ClinVar
PMID:18089823 PMID:18355544 PMID:21172876 PMID:21274259 PMID:23380224 PMID:23578570 PMID:24934779 PMID:25057940 PMID:25157968 PMID:25176975 PMID:28492532 PMID:34012789 More...
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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FGFR2
fibroblast growth factor receptor 2
IAGP
ClinVar Annotator: match by term: Neoplasm of head and neck
ClinVar
PMID:7668257 PMID:7719344 PMID:8651276 PMID:9677057 PMID:9700203 PMID:11390973 PMID:12124745 PMID:15389579 PMID:16969861 PMID:17251833 PMID:20489451 PMID:23786770 PMID:24656465 PMID:25741868 PMID:25867380 PMID:28492532 PMID:31145570 More...
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FGFR4
fibroblast growth factor receptor 4
severity
IAGP
DNA:SNP:exon 9: p.G388R (human)
RGD
PMID:17084840
RGD:150520023
NCBI chr 5:177,086,915...177,098,144
Ensembl chr 5:177,086,905...177,098,144
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FOXE1
forkhead box E1
IAGP
HPO
ORPHA:319487
NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717
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HABP2
hyaluronan binding protein 2
IAGP
HPO
ORPHA:319487
NCBI chr10:113,550,831...113,589,602
Ensembl chr10:113,550,837...113,589,602
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MDM2
MDM2 proto-oncogene
IAGP
HPO
ORPHA:524
NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544
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MINPP1
multiple inositol-polyphosphate phosphatase 1
IAGP
HPO
ORPHA:319487
NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
IAGP
ClinVar Annotator: match by term: Neoplasm of head and neck
ClinVar
PMID:15016963 PMID:15254419 PMID:15647370 PMID:15805248 PMID:16906227 PMID:16930767 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21430269 PMID:22162582 PMID:22162589 PMID:23408298 PMID:25157968 PMID:26619011 More...
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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SCIMP
SLP adaptor and CSK interacting membrane protein
IAGP
ClinVar Annotator: match by term: Neoplasm of head and neck
ClinVar
PMID:32266149
NCBI chr17:5,208,920...5,234,860
Ensembl chr17:5,208,920...5,234,860
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TP53
tumor protein p53
IAGP
ClinVar Annotator: match by term: Neoplasm of head and neck
HPO ClinVar
PMID:9067756 PMID:11370630 PMID:11782540 PMID:16818505 PMID:17606709 PMID:20407015 PMID:20522432 PMID:21331359 PMID:21343334 PMID:21519010 PMID:22186996 PMID:22551548 PMID:22915647 PMID:23246812 PMID:23255406 PMID:24382691 PMID:25157968 PMID:25741868 PMID:25952993 PMID:26225655 PMID:26230955 PMID:26585234 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27726232 PMID:27895058 PMID:27959731 PMID:28492532 PMID:28573494 PMID:28873162 PMID:30107858 PMID:30327374 PMID:30607672 PMID:31081129 PMID:31119730 PMID:31775759 PMID:33471991 PMID:34049842 PMID:34240179 PMID:35974385 PMID:36329109 PMID:36988593 More...
ORPHA:524
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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ZNF594-DT
ZNF594 divergent transcript
IAGP
ClinVar Annotator: match by term: Neoplasm of head and neck
ClinVar
PMID:32266149
NCBI chr17:5,192,007...5,236,003
Ensembl chr17:5,191,999...5,255,713
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ASCC1
activating signal cointegrator 1 complex subunit 1
IAGP
ClinVar Annotator: match by term: Barrett esophagus
ClinVar HPO
PMID:25741868
MIM:614266
NCBI chr10:72,096,032...72,217,134
Ensembl chr10:72,096,032...72,217,134
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CTHRC1
collagen triple helix repeat containing 1
IAGP
ClinVar Annotator: match by term: Barrett esophagus
ClinVar HPO
MIM:614266
NCBI chr 8:103,371,538...103,382,989
Ensembl chr 8:103,371,538...103,382,989
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FH
fumarate hydratase
IAGP
HPO
ORPHA:523
NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
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MSR1
macrophage scavenger receptor 1
IAGP
ClinVar Annotator: match by term: Barrett esophagus ClinVar Annotator: match by term: Barrett's esophagus
ClinVar HPO
PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 PMID:25741868 PMID:28492532 More...
MIM:614266
NCBI chr 8:16,107,881...16,192,651
Ensembl chr 8:16,107,878...16,567,490
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MYH11
myosin heavy chain 11
IAGP
HPO
MIM:619350
NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438
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RAD21
RAD21 cohesin complex component
IAGP
HPO
MIM:611376
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
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AKT1
AKT serine/threonine kinase 1
severity
IAGP
DNA:SNPs:introns: (rs3803304, rs1130214)
RGD
PMID:19164214
RGD:408345192
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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APC
APC regulator of WNT signaling pathway
IAGP
HPO
ORPHA:247806 ORPHA:79665
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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ASCC1
activating signal cointegrator 1 complex subunit 1
IAGP
HPO
MIM:614266
NCBI chr10:72,096,032...72,217,134
Ensembl chr10:72,096,032...72,217,134
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BRCA2
BRCA2 DNA repair associated
IAGP
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:17972177 PMID:18431501 PMID:18627636 PMID:18779604 PMID:21120943 PMID:21218378 PMID:21523855 PMID:22126563 PMID:22293751 PMID:22486713 PMID:23555315 PMID:24055113 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26689913 PMID:28222693 PMID:28492532 PMID:30702160 PMID:31131967 PMID:32467295 PMID:33471991 PMID:35464868 More...
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
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CDKN2A
cyclin dependent kinase inhibitor 2A
IAGP
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:25741868 PMID:26619011 PMID:28492532
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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CTHRC1
collagen triple helix repeat containing 1
IAGP
HPO
MIM:614266
NCBI chr 8:103,371,538...103,382,989
Ensembl chr 8:103,371,538...103,382,989
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CTNNB1
catenin beta 1
IAGP
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:9065402 PMID:9065403 PMID:9294210 PMID:10027390 PMID:10192393 PMID:10391090 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:25157968 PMID:26619011 PMID:26822237 More...
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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CYP24A1
cytochrome P450 family 24 subfamily A member 1
susceptibility
IAGP
DNA:SNP:CDS: (rs2296241)
RGD
PMID:28362172
RGD:151665500
NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986
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DCC
DCC netrin 1 receptor
IAGP
HPO
MIM:133239
NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899
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DLEC1
DLEC1 cilia and flagella associated protein
IAGP
HPO
ORPHA:99977
NCBI chr 3:38,039,208...38,124,025
Ensembl chr 3:38,039,205...38,124,025
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EGFR
epidermal growth factor receptor
IAGP
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:15623594 PMID:16205628 PMID:16707764 PMID:16863509 PMID:17653080 PMID:19147750 PMID:19536777 PMID:20522446 PMID:22753918 PMID:23102728 PMID:24033266 PMID:25157968 PMID:25521405 PMID:26051236 PMID:29141884 More...
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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EGFR-AS1
EGFR antisense RNA 1
IAGP
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:15623594 PMID:16205628 PMID:16707764 PMID:16863509 PMID:17653080 PMID:19147750 PMID:19536777 PMID:20522446 PMID:22753918 PMID:23102728 PMID:24033266 PMID:25157968 PMID:25521405 PMID:26051236 PMID:29141884 More...
NCBI chr 7:55,179,750...55,188,949
Ensembl chr 7:55,179,750...55,212,969
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EP300
E1A binding protein p300
IAGP
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:26619011
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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ERBB2
erb-b2 receptor tyrosine kinase 2
IAGP
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:16397024 PMID:23220880 PMID:25157968 PMID:26619011
NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
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FBXW7
F-box and WD repeat domain containing 7
IAGP
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:25741868 PMID:26619011
NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092
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FGFR2
fibroblast growth factor receptor 2
IAGP
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:25157968 PMID:26619011
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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HRAS
HRas proto-oncogene, GTPase
IAGP
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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KRAS
KRAS proto-oncogene, GTPase
IAGP
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:16361624 PMID:16618717 PMID:18316791 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:26619011 PMID:30891959 More...
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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LOC126806658
BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098
IAGP
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:9065402 PMID:9065403 PMID:9294210 PMID:10027390 PMID:10192393 PMID:10391090 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:25157968 PMID:26619011 PMID:26822237 More...
NCBI chr 3:41,224,408...41,225,607
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LRRC56
leucine rich repeat containing 56
IAGP
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
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LZTS1
leucine zipper tumor suppressor 1
IAGP
HPO
MIM:133239
NCBI chr 8:20,246,165...20,303,963
Ensembl chr 8:20,246,165...20,303,963
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MAP3K1
mitogen-activated protein kinase kinase kinase 1
sexual_dimorphism
IAGP
DNA:missense mutation, SNP:CDS, exon 14, 3'-UTR: (rs702689,rs702688)
RGD
PMID:32753933
RGD:150573717
NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
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MMP1
matrix metallopeptidase 1
IAGP
DNA:insertion:promoter:g.-1607insG (rs1799750)
RGD
PMID:19321798
RGD:7207058
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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MMP12
matrix metallopeptidase 12
IAGP
DNA:snp:promoter:g.-82A>G (rs2276109)
RGD
PMID:19321798
RGD:7207058
NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982
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MMP3
matrix metallopeptidase 3
IAGP
DNA:insertion:promoter:g.-1613insA (rs3025058)
RGD
PMID:19321798
RGD:7207058
NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
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MSR1
macrophage scavenger receptor 1
IAGP
HPO
MIM:614266
NCBI chr 8:16,107,881...16,192,651
Ensembl chr 8:16,107,878...16,567,490
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MYC
MYC proto-oncogene, bHLH transcription factor
IAGP
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:25157968 PMID:26619011
NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
IAGP
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25681199 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29446767 PMID:29661094 PMID:29988677 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:34568242 PMID:34606700 PMID:37667289 PMID:37712948 More...
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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PTPRT
protein tyrosine phosphatase receptor type T
susceptibility
IAGP
DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human)
RGD
PMID:25967969
RGD:150520191
NCBI chr20:42,031,890...43,189,906
Ensembl chr20:42,072,752...43,189,970
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RHBDF2
rhomboid 5 homolog 2
IAGP
HPO
MIM:148500
NCBI chr17:76,470,893...76,501,427
Ensembl chr17:76,470,891...76,501,790
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RHOA
ras homolog family member A
IAGP
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:26619011
NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998
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RNF6
ring finger protein 6
IAGP
HPO
MIM:133239 ORPHA:99977
NCBI chr13:26,132,115...26,223,085
Ensembl chr13:26,132,115...26,222,314
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SMAD4
SMAD family member 4
IAGP
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10797267 PMID:11274206 PMID:11583957 PMID:12116240 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:15799969 PMID:16613914 PMID:17132729 PMID:17873119 PMID:17994767 PMID:18823382 PMID:20101697 PMID:20301642 PMID:22316667 PMID:22331366 PMID:25741868 PMID:26572829 PMID:26619011 PMID:27595937 PMID:28492532 PMID:31837202 PMID:32300199 PMID:32573726 PMID:32944796 PMID:33326750 More...
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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STAT1
signal transducer and activator of transcription 1
IAGP
HPO
ORPHA:391487
NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
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TGFBR2
transforming growth factor beta receptor 2
IAGP
HPO
MIM:133239 ORPHA:99977
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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TNFAIP3
TNF alpha induced protein 3
disease_progression severity
IAGP
DNA:SNP:intron 6: (rs610604) (human) DNA:SNP:3'utr: (rs583522) (human)
RGD
PMID:25354935 PMID:26598072
RGD:151347597 , RGD:11075880
NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314
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TOM1
target of myb1 membrane trafficking protein
IAGP
HPO
ORPHA:391487
NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992
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TP53
tumor protein p53
IAGP
ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar
PMID:124622 PMID:253702 PMID:960674 PMID:1349175 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1591732 PMID:1631137 PMID:1631151 PMID:1673792 PMID:1679237 PMID:1683921 PMID:1686725 PMID:1915267 PMID:1918170 PMID:1978757 PMID:2046748 PMID:2259385 PMID:2531845 PMID:2554494 PMID:2654466 PMID:3784963 PMID:4122735 PMID:6736287 PMID:7478555 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7718482 PMID:7732013 PMID:7737263 PMID:7750099 PMID:7761089 PMID:7783166 PMID:7791795 PMID:7881428 PMID:7885831 PMID:7887414 PMID:8001119 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8276238 PMID:8308926 PMID:8336941 PMID:8344492 PMID:8364550 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8464896 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8631304 PMID:8633021 PMID:8649776 PMID:8688334 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8843196 PMID:8869100 PMID:9020384 PMID:9049183 PMID:9049184 PMID:9150393 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399658 PMID:9399838 PMID:9407971 PMID:9525742 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9635828 PMID:9667734 PMID:9704930 PMID:9825943 PMID:9839505 PMID:9979965 PMID:10089074 PMID:10229196 PMID:10411893 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10629033 PMID:10713666 PMID:10732753 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11051241 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11867759 PMID:11896595 PMID:11900253 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12124823 PMID:12406399 PMID:12506399 PMID:12509279 PMID:12672316 PMID:12695689 PMID:12700230 PMID:12702523 PMID:12726864 PMID:12792784 PMID:12826609 PMID:12885464 PMID:12901974 PMID:12909720 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15138567 PMID:15221755 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15611505 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15958617 PMID:15982667 PMID:15993273 PMID:16206219 PMID:16209708 PMID:16247456 PMID:16258005 PMID:16288208 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16492679 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16778209 PMID:16793544 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17170001 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17541742 PMID:17567834 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:17881637 PMID:17974978 PMID:17999388 PMID:18208484 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18689542 PMID:18818522 PMID:18937320 PMID:18978813 PMID:18989156 PMID:19012332 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367287 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19462533 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19834951 PMID:19850740 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20182602 PMID:20195489 PMID:20364130 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20586629 PMID:20589832 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20972454 PMID:21056685 PMID:21059199 PMID:21080251 PMID:21113594 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21188122 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21590121 PMID:21601526 PMID:21626334 PMID:21674059 PMID:21747090 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22090360 PMID:22109999 PMID:22110706 PMID:22186996 PMID:22198284 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22484423 PMID:22553421 PMID:22672556 PMID:22710932 PMID:22713868 PMID:22768918 PMID:22811390 PMID:22862161 PMID:22887876 PMID:22915647 PMID:22919068 PMID:22955915 PMID:22983585 PMID:22999923 PMID:23028800 PMID:23031740 PMID:23124483 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23264849 PMID:23265383 PMID:23334668 PMID:23340422 PMID:23406775 PMID:23538418 PMID:23612969 PMID:23625637 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23939625 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24076587 PMID:24122735 PMID:24307375 PMID:24381225 PMID:24384472 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24728327 PMID:24744791 PMID:24810334 PMID:24835218 PMID:24857548 PMID:24940547 PMID:25119136 PMID:25157968 PMID:25186627 PMID:25294809 PMID:25339994 PMID:25381062 PMID:25428789 PMID:25433984 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25619955 PMID:25634208 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25961455 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26066407 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26271412 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26554828 PMID:26556299 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26655088 PMID:26659639 PMID:26681312 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27050224 PMID:27077130 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27276934 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27501770 PMID:27523101 PMID:27533082 PMID:27557517 PMID:27616075 PMID:27621308 PMID:27622479 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28166194 PMID:28271309 PMID:28279309 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28772286 PMID:28776571 PMID:28802053 PMID:28861920 PMID:28873162 PMID:28973705 PMID:28975465 PMID:29025599 PMID:29058119 PMID:29070607 PMID:29076966 PMID:29126202 PMID:29300620 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29666004 PMID:29752822 PMID:29753700 PMID:29875428 PMID:29958926 PMID:29979965 PMID:30076369 PMID:30099178 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30318520 PMID:30322717 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30546832 PMID:30583724 PMID:30630526 PMID:30675318 PMID:30709381 PMID:30709875 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31016814 PMID:31050713 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31121848 PMID:31127191 PMID:31168460 PMID:31206626 PMID:31296311 PMID:31300551 PMID:31494577 PMID:31533767 PMID:31748977 PMID:31775759 PMID:31881331 PMID:31882575 PMID:32000721 PMID:32019277 PMID:32126783 PMID:32156018 PMID:32164171 PMID:32179180 PMID:32187361 PMID:32295079 PMID:32318955 PMID:32371905 PMID:32401780 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32906206 PMID:32959997 PMID:32980694 PMID:33087929 PMID:33138793 PMID:33163847 PMID:33208383 PMID:33245408 PMID:33300245 PMID:33332384 PMID:33372952 PMID:33407742 PMID:33471991 PMID:33633026 PMID:33635883 PMID:33674644 PMID:33758026 PMID:33818021 PMID:33840814 PMID:34240179 PMID:34266904 PMID:34308366 PMID:34529667 PMID:34675114 PMID:34709361 PMID:34793666 PMID:34805717 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35264596 PMID:35820297 PMID:35938033 PMID:35974385 PMID:36168441 PMID:36219266 PMID:36988593 More...
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
G
WWOX
WW domain containing oxidoreductase
IAGP
HPO
MIM:133239 ORPHA:99977
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
G
XRCC1
X-ray repair cross complementing 1
treatment susceptibility
IAGP
DNA:missense mutation:exon 9: p.T304A, c.910A>G (human) DNA:SNPs:exon 6, exon 9, exon 10:multiple (human)
RGD
PMID:28356949 PMID:24345911 PMID:27123143
RGD:150530505 , RGD:150530620 , RGD:150530634
NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
G
AAGAB
alpha and gamma adaptin binding protein
IAGP
HPO
ORPHA:79501
NCBI chr15:67,200,667...67,255,198
Ensembl chr15:67,200,667...67,255,195
G
BLM
BLM RecQ like helicase
IAGP
HPO
ORPHA:125
NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
G
COL14A1
collagen type XIV alpha 1 chain
IAGP
HPO
ORPHA:79501
NCBI chr 8:120,124,454...120,373,573
Ensembl chr 8:120,059,780...120,373,573
G
COL4A5
collagen type IV alpha 5 chain
IAGP
HPO
ORPHA:1018
NCBI chr X:108,439,838...108,697,545
Ensembl chr X:108,439,838...108,697,545
G
COL4A6
collagen type IV alpha 6 chain
IAGP
HPO
ORPHA:1018
NCBI chr X:108,155,614...108,439,458
Ensembl chr X:108,155,607...108,439,497
G
FH
fumarate hydratase
IAGP
HPO
ORPHA:523
NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
G
KDM6A
lysine demethylase 6A
IAGP
DNA:mutations:multiple:
RGD
PMID:25151357
RGD:9588233
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
G
KIT
KIT proto-oncogene, receptor tyrosine kinase
IAGP
HPO
ORPHA:44890
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
G
MMP1
matrix metallopeptidase 1
IAGP
DNA:insertion:promoter:g.-1607insG (rs1799750)
RGD
PMID:19321798
RGD:7207058
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
G
PDE11A
phosphodiesterase 11A
IAGP
HPO
ORPHA:1359
NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339
G
PDGFRA
platelet derived growth factor receptor alpha
IAGP
HPO
ORPHA:44890
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
G
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha
IAGP
HPO
ORPHA:1359
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
G
RHBDF2
rhomboid 5 homolog 2
IAGP
HPO
ORPHA:2198
NCBI chr17:76,470,893...76,501,427
Ensembl chr17:76,470,891...76,501,790
G
SDHA
succinate dehydrogenase complex flavoprotein subunit A
IAGP
HPO
ORPHA:44890
NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
G
SDHB
succinate dehydrogenase complex iron sulfur subunit B
IAGP
HPO
ORPHA:44890
NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
G
SDHC
succinate dehydrogenase complex subunit C
IAGP
HPO
ORPHA:44890
NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
G
SPEN
spen family transcriptional repressor
IAGP
associated with Neoplasm Metastasis; DNA:mutations
RGD
PMID:33363385
RGD:151347445
NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
G
STK11
serine/threonine kinase 11
IAGP
HPO
ORPHA:2869
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
G
XRCC1
X-ray repair cross complementing 1
susceptibility no_association
IAGP
DNA:SNPs,haplotypes:multiple (human) DNA:missense mutation:cds: p.R399Q (human)
RGD
PMID:25710005 PMID:11400117
RGD:150530501 , RGD:151347444
NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
G
CTNNB1
catenin beta 1
IAGP
ClinVar Annotator: match by term: Juvenile nasopharyngeal angiofibroma
ClinVar
PMID:25157968 PMID:25741868 PMID:26619011
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
G
LOC126806658
BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098
IAGP
ClinVar Annotator: match by term: Juvenile nasopharyngeal angiofibroma
ClinVar
PMID:25157968 PMID:25741868 PMID:26619011
NCBI chr 3:41,224,408...41,225,607
G
STK11
serine/threonine kinase 11
IAGP
HPO
ORPHA:2869
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
G
PDE11A
phosphodiesterase 11A
IAGP
HPO
ORPHA:1359
NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339
G
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha
IAGP
HPO
ORPHA:1359
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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