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RGD DISEASE ONTOLOGY - ANNOTATIONS

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:Tongue Neoplasms
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Accession:DOID:9005873 term browser browse the term
Definition:Tumors or cancer of the TONGUE.
Synonyms:exact_synonym: tongue neoplasm;   tongue neoplasms
 primary_id: MESH:D014062
 alt_id: DOID:8649
 xref: EFO:0003871
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Tongue Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor treatment ISO RGD PMID:17374970 RGD:1625338 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129 		JBrowse link
G AQP3 aquaporin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21401805 NCBI chr11:50,517,509...50,524,565 JBrowse link
G BCL2 BCL2 apoptosis regulator ISO protein:increased expression:tongue: RGD PMID:12167434 RGD:8547871 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A disease_progression ISO RGD PMID:11488071 RGD:8662423 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A severity ISO DNA:point mutations, missense mutation:exon
DNA:loss of heterozygosity
protein:decreased expression:tongue		 RGD PMID:16527513 PMID:17091472 PMID:18804414 RGD:11252155 RGD:1578522 RGD:1600814 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO DNA:loss of heterozygosity RGD PMID:16527513 RGD:1578522 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CRYAB crystallin alpha B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19840781 NCBI chr 5:21,181,836...21,185,164
Ensembl chr 5:21,179,936...21,360,132 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO protein:increased expression:tongue epithelium RGD PMID:14674993 RGD:2293780 NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467 		JBrowse link
G HRAS HRas proto-oncogene, GTPase susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20043093 RGD:12738401 NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19840781 NCBI chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576 		JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:blood: RGD PMID:8493451 RGD:8548876 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794 		JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISO protein:increased expression:tongue epithelium RGD PMID:14674993 RGD:2293780 NCBI chr20:49,358,904...49,360,746
Ensembl chr20:49,359,399...49,360,442 		JBrowse link
G KRT14 keratin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr 9:21,190,672...21,195,060
Ensembl chr 9:21,156,045...21,265,564 		JBrowse link
G LOC100686073 metallothionein-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr 2:59,603,021...59,604,173
Ensembl chr 2:59,603,014...59,604,132 		JBrowse link
G MIR222 microRNA mir-222 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19487542 NCBI chr  X:39,524,519...39,524,608
Ensembl chr  X:39,524,519...39,524,608 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO protein:decreased expression:saliva RGD PMID:19789535 RGD:8657148 NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 PMID:22561872 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903 		JBrowse link
G SOD2 superoxide dismutase 2 ISO mRNA,protein:increased expression:tongue:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:20618948 RGD:8547519 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression ISO RGD PMID:17169602 PMID:22302289 RGD:8694287 RGD:8694311 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672 		JBrowse link
G TLR5 toll like receptor 5 ISO protein:increased expression:tongue: RGD PMID:23287987 RGD:7814374 NCBI chr38:23,700,323...23,705,628
Ensembl chr38:23,702,033...23,705,314 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:saliva
mRNA,protein:increased expression:tongue:		 RGD PMID:14747060 PMID:21397550 RGD:7401243 RGD:7401244 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TP53 tumor protein p53 ISO protein:increased expression:tongue:
DNA:mutations:cds:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:9485768 PMID:12167434 PMID:16543248 PMID:21903770 RGD:8547850 RGD:8547871 RGD:8547872 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G TYMS thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16280240 NCBI chr 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747 		JBrowse link
G VEGFA vascular endothelial growth factor A disease_progression ISO RGD PMID:15289890 RGD:7488946 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G VEGFC vascular endothelial growth factor C disease_progression ISO RGD PMID:15289890 RGD:7488946 NCBI chr16:52,883,242...52,987,684
Ensembl chr16:52,883,139...52,987,563 		JBrowse link
congenital heart defects, hamartomas of tongue, and polysyndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDPCP WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 More... NCBI chr10:62,894,818...63,316,555
Ensembl chr10:62,877,527...63,316,345 		JBrowse link
tongue cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDX3X DEAD-box helicase 3 X-linked ameliorates ISO RGD PMID:25918862 RGD:151356506 NCBI chr  X:35,759,367...35,789,759
Ensembl chr  X:35,759,416...35,789,774 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 severity ISO associated with human papillomavirus;protein:decreased expression:tumor cells RGD PMID:30061236 RGD:36947883 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:decreased expression:tongue RGD PMID:30617160 RGD:21081517 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833 		JBrowse link
G MIR491 microRNA mir-491 disease_progression ISO mRNA:decreased expression:tongue (human) RGD PMID:25749387 RGD:152995520 NCBI chr11:40,300,967...40,301,020
Ensembl chr11:40,300,951...40,301,034 		JBrowse link
G RICTOR RPTOR independent companion of MTOR complex 2 disease_progression ISO protein:increased expression:tongue (human) RGD PMID:25749387 RGD:152995520 NCBI chr 4:69,903,393...70,013,168
Ensembl chr 4:69,936,379...70,010,566 		JBrowse link
tongue carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO associated with oral squamous cell carcinoma; protein:increased expression: oral mucosa squamous cell, cervical lymph node (human) RGD PMID:20204288 RGD:27372889 NCBI chr30:7,361,982...7,410,162
Ensembl chr30:7,322,912...7,438,052 		JBrowse link
tongue squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO protein:increased activity:saliva: RGD PMID:20379753 RGD:152995262 NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing disease_progression ISO protein:decreased expression:serum RGD PMID:23181352 RGD:8694469 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658 		JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 exacerbates ISO protein:increased expression:tongue (human) RGD PMID:18621506 RGD:153323319 NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771 		JBrowse link
G BRINP3 BMP/retinoic acid inducible neural specific 3 ISO mRNA:decreased expression:tongue: RGD PMID:19787213 RGD:14398487 NCBI chr38:8,181,227...8,558,518
Ensembl chr38:8,205,916...8,558,482 		JBrowse link
G CAV2 caveolin 2 ISO protein:increased expression:mucosa of tongue RGD PMID:20558341 RGD:8661771 NCBI chr14:55,437,622...55,445,481
Ensembl chr14:55,437,622...55,445,469 		JBrowse link
G CCND1 cyclin D1 ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A disease_progression ISO RGD PMID:12162767 RGD:8662376 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO mRNA:increased expression:head, neck (human) RGD PMID:31452775 RGD:150520018 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354 		JBrowse link
G EGFR epidermal growth factor receptor treatment ISO RGD PMID:19380367 RGD:8551769 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:19691460 RGD:126781771 NCBI chr10:406,856...424,746
Ensembl chr10:406,633...424,264 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 severity ISO RGD PMID:19691460 RGD:126781771 NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426 		JBrowse link
G FANCB FA complementation group B ISO RGD PMID:17409780 RGD:11049143 NCBI chr  X:10,690,826...11,140,838
Ensembl chr  X:11,095,200...11,141,029 		JBrowse link
G FANCC FA complementation group C ISO RGD PMID:17409780 RGD:11049143 NCBI chr 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506 		JBrowse link
G FANCF FA complementation group F ISO mRNA:decreased expression:tongue: RGD PMID:17409780 RGD:11049143 NCBI chr21:44,253,308...44,256,221
Ensembl chr21:44,255,134...44,256,618 		JBrowse link
G FANCG FA complementation group G ISO RGD PMID:17409780 RGD:11049143 NCBI chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751 		JBrowse link
G FANCI FA complementation group I ISO RGD PMID:17409780 RGD:11049143 NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226 		JBrowse link
G FANCL FA complementation group L ISO RGD PMID:17409780 RGD:11049143 NCBI chr10:58,521,480...58,637,352
Ensembl chr10:58,521,552...58,637,482 		JBrowse link
G FANCM FA complementation group M ISO RGD PMID:17409780 RGD:11049143 NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO mRNA,protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467 		JBrowse link
G FOSB FosB proto-oncogene, AP-1 transcription factor subunit ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 1:110,088,686...110,092,818
Ensembl chr 1:110,087,036...110,092,818 		JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit ISO protein:decreased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr18:51,366,719...51,374,411
Ensembl chr18:51,368,352...51,373,748 		JBrowse link
G FOSL2 FOS like 2, AP-1 transcription factor subunit ISO mRNA,protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr17:22,340,469...22,364,994
Ensembl chr17:22,341,322...22,361,772 		JBrowse link
G FUBP1 far upstream element binding protein 1 exacerbates ISO mRNA, protein:increased expression:tongue (human) RGD PMID:32339054 RGD:151361191 NCBI chr 6:68,923,215...68,963,766 JBrowse link
G GJA1 gap junction protein alpha 1 ISO protein:decreased expression:epithelium RGD PMID:23568744 RGD:8662380 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936 		JBrowse link
G HGF hepatocyte growth factor ISO protein:increased expression:tongue: RGD PMID:20848408 RGD:8548612 NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263 		JBrowse link
G IFNG interferon gamma disease_progression ISO protein:decreased expression:serum: RGD PMID:17338814 RGD:8662972 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G IL10 interleukin 10 disease_progression ISO protein:increased expression:serum: RGD PMID:17338814 RGD:8662972 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 disease_progression ISO RGD PMID:25193287 RGD:39938972 NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357 		JBrowse link
G IL2 interleukin 2 ISO protein:decreased expression:serum: RGD PMID:17338814 RGD:8662972 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394 		JBrowse link
G IL33 interleukin 33 disease_progression ISO RGD PMID:25193287 RGD:39938972 NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721 		JBrowse link
G JAK3 Janus kinase 3 disease_progression ISO RGD PMID:26860129 RGD:11531126 NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO mRNA,protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 5:50,966,698...50,968,939 JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr20:49,358,904...49,360,746
Ensembl chr20:49,359,399...49,360,442 		JBrowse link
G JUND JunD proto-oncogene, AP-1 transcription factor subunit ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr20:44,737,021...44,738,932
Ensembl chr20:44,736,832...44,763,020 		JBrowse link
G KDR kinase insert domain receptor treatment ISO RGD PMID:19380367 RGD:8551769 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042 		JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 ISO mRNA:increased expression:tongue squamous epithelium (human) RGD PMID:28319306 RGD:150429750 NCBI chr 5:36,142,610...36,243,673
Ensembl chr 5:36,118,388...36,241,296 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:tongue: RGD PMID:20848408 RGD:8548612 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G MTUS1 microtubule associated scaffold protein 1 disease_progression ISO RGD PMID:22153618 RGD:25330347 NCBI chr16:40,955,619...41,118,601
Ensembl chr16:40,957,574...41,068,967 		JBrowse link
G SLC1A5 solute carrier family 1 member 5 disease_progression ISO RGD PMID:24762957 RGD:151361157 NCBI chr 1:109,150,205...109,161,375
Ensembl chr 1:109,150,205...109,161,141 		JBrowse link
G SLC3A2 solute carrier family 3 member 2 disease_progression ISO RGD PMID:24762957 RGD:151361157 NCBI chr18:53,810,468...53,819,021
Ensembl chr18:53,810,398...53,819,021 		JBrowse link
G SLC7A11 solute carrier family 7 member 11 severity ISO RGD PMID:24762957 RGD:151361157 NCBI chr19:4,289,792...4,379,060
Ensembl chr19:4,289,850...4,389,048 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:24762957 RGD:151361157 NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858 		JBrowse link
G SOX2 SRY-box transcription factor 2 disease_progression ISO RGD PMID:21689966 RGD:8661665 NCBI chr34:14,853,000...14,855,153 JBrowse link
G TP53 tumor protein p53 ISO protein:increased expression:tongue: RGD PMID:20385474 RGD:8547851 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17652
    sensory system disease 6747
      mouth disease 879
        tongue disease 80
          Tongue Neoplasms 73
            congenital heart defects, hamartomas of tongue, and polysyndactyly 1
            tongue cancer + 52
Path 2
Term Annotations click to browse term
  disease 17652
    disease of anatomical entity 15126
      nervous system disease 13237
        Neurologic Manifestations 9614
          sensory system disease 6747
            mouth disease 879
              tongue disease 80
                Tongue Neoplasms 73
                  congenital heart defects, hamartomas of tongue, and polysyndactyly 1
                  tongue cancer + 52
paths to the root