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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:Laryngeal Neoplasms
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Accession:DOID:9003613 term browser browse the term
Definition:Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS.
Synonyms:exact_synonym: Laryngeal Neoplasm;   laryngeal tumor;   larynx neoplasm;   larynx neoplasms;   neoplasm of larynx
 primary_id: MESH:D007822
 xref: EFO:0003817


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Laryngeal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500343 NCBI chr 2:229,422,125...229,436,584
Ensembl chr 2:226,741,788...226,763,182 		JBrowse link
G Egfr epidermal growth factor receptor severity ISO protein:increased expression:tumor (human) RGD PMID:8883413 RGD:5131485 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snp:exon:c.354T>C (human) (rs11615) RGD PMID:24582975 RGD:13207310 NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO protein:increased expression:larynx RGD PMID:18335753 RGD:4140949 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Mir10a microRNA 10a sexual_dimorphism ISO miRNA:decreased expression:larynx epithelium (human) RGD PMID:25266939 RGD:153344531 NCBI chr10:81,779,709...81,779,818
Ensembl chr10:81,283,171...81,283,280 		JBrowse link
G Mir34c microRNA 34c sexual_dimorphism ISO miRNA:increased expression:larynx epithelium (human) RGD PMID:25266939 RGD:153344531 NCBI chr 8:60,306,091...60,306,167
Ensembl chr 8:51,409,726...51,409,802 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:17786346 RGD:5130203 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nat1 N-acetyltransferase 1 susceptibility ISO DNA:polymorphism: : RGD PMID:12037388 RGD:5131864 NCBI chr16:26,984,882...27,005,194
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 severity ISO protein:increased expression:larynx RGD PMID:20429377 RGD:5135434 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16299231 RGD:1581365 NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
glottis squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wrap53 WD repeat containing, antisense to TP53 disease_progression ISO RGD PMID:28849066 RGD:21081521 NCBI chr10:54,780,873...54,797,919
Ensembl chr10:54,282,105...54,298,929 		JBrowse link
laryngeal carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 disease_progression ISO protein:increased expression:larynx (human) RGD PMID:16494043 RGD:152025548 NCBI chr 9:98,247,300...98,258,877
Ensembl chr 9:90,799,686...90,811,237 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO protein:increased expression:larynx (human) RGD PMID:16494043 RGD:152025548 NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO mRNA:decreased expression:larynx RGD PMID:25633166 RGD:151356763 NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:9,609,627...9,833,539 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 severity ISO RGD PMID:20164024 RGD:150573814 NCBI chr10:5,389,574...5,391,265
Ensembl chr10:4,882,560...4,884,383 		JBrowse link
G Traf6 TNF receptor associated factor 6 disease_progression ISO RGD PMID:20164024 RGD:150573814 NCBI chr 3:108,418,537...108,443,330
Ensembl chr 3:87,963,514...87,983,507 		JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 exacerbates ISO mRNA, protein:increased expression:larynx (human) RGD PMID:32468011 RGD:151665191 NCBI chr 7:71,000,197...71,109,841
Ensembl chr 7:69,116,761...69,224,903 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:missense mutation:cds: p.R280H (human)
DNA:SNPs, haplotype:: (rs3213403, rs1799778, rs3213282) (human) 		RGD PMID:27808358 PMID:24956286 RGD:151236313, RGD:151236314 NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
Laryngeal Papillomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:19736197 RGD:5135499 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Serpina3n serpin family A member 3N ISO protein:decreased expression:serum RGD PMID:16273852 RGD:5147435 NCBI chr 6:129,088,392...129,095,950
Ensembl chr 6:123,323,629...123,332,433 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO RGD PMID:10618282 RGD:5147846 NCBI chr20:4,658,171...4,668,543
Ensembl chr20:4,656,263...4,666,901 		JBrowse link
laryngeal 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:decreased activity:larynx RGD PMID:8138195 RGD:152995273 NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Cat catalase ISO protein:increased activity:larynx RGD PMID:8138195 RGD:152995273 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cdc73 cell division cycle 73 disease_progression ISO protein:decreased expression:larynx (human) RGD PMID:27334641 RGD:150539447 NCBI chr13:57,897,924...58,000,031
Ensembl chr13:55,357,226...55,449,656 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:15646812 RGD:8662837 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 exacerbates ISO mRNA:increased expression:larynx (human) RGD PMID:33315534 RGD:153323310 NCBI chr 4:159,584,623...159,617,867
Ensembl chr 4:157,899,391...157,931,541 		JBrowse link
G Egfr epidermal growth factor receptor disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:996,225...1,015,525 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G Foxl2 forkhead box L2 exacerbates ISO mRNA:increased expression:larynx (human) RGD PMID:32517588 RGD:151667913 NCBI chr 8:108,392,466...108,395,553
Ensembl chr 8:99,513,303...99,514,427 		JBrowse link
G Gpx1 glutathione peroxidase 1 disease_progression
no_association		 ISO protein:increased expression:larynx (human)
DNA:missense mutation:CDS:p.P198L (human)
DNA:missense mutation:CDS:p.P198L (rs1050450) (human)		 RGD PMID:28641905 PMID:24074040 PMID:27188866 RGD:152995454, RGD:152995493, RGD:152995455 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 severity ISO associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human) RGD PMID:19513509 RGD:150429781 NCBI chr10:50,842,348...50,947,063
Ensembl chr10:50,344,915...50,447,993 		JBrowse link
G Mir10a microRNA 10a severity ISO miRNA:decreased expression:blood serum (human) RGD PMID:35117730 RGD:153344530 NCBI chr10:81,779,709...81,779,818
Ensembl chr10:81,283,171...81,283,280 		JBrowse link
G Mir136 microRNA 136 ISO RNA:decreased expression:larynx (human) RGD PMID:32014687 RGD:153344610 NCBI chr 6:134,331,335...134,331,416
Ensembl chr 6:128,549,096...128,549,177 		JBrowse link
G Mir21 microRNA 21 exacerbates ISO miRNA:increased expression:blood serum (human) RGD PMID:35117730 RGD:153344530 NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Mir31 microRNA 31 disease_progression ISO RNA:decreased expression:mucosa of larynx (human) RGD PMID:29737563 RGD:152998933 NCBI chr 5:108,714,849...108,714,954 JBrowse link
G Mlh1 mutL homolog 1 disease_progression ISO mRNA:decreased expression:larynx RGD PMID:23787767 RGD:126848783 NCBI chr 8:120,074,871...120,112,109
Ensembl chr 8:111,196,468...111,233,617 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:17786346 RGD:5130203 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Msh2 mutS homolog 2 disease_progression ISO mRNA:decreased expression:larynx RGD PMID:23787767 RGD:126848783 NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938 		JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:19922706 PMID:16155914 RGD:5131602, RGD:5131856 NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Plcg1 phospholipase C, gamma 1 ameliorates ISO mRNA:increased expression:larynx (human) RGD PMID:33466212 RGD:151665160 NCBI chr 3:169,805,299...169,836,040
Ensembl chr 3:149,385,587...149,416,330 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit severity ISO associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human) RGD PMID:19513509 RGD:150429781 NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Xdh xanthine dehydrogenase ISO protein:increased activity:larynx RGD PMID:8138195 RGD:152995273 NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma ClinVar NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
larynx cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcl12 C-X-C motif chemokine ligand 12 exacerbates ISO protein:increased expression: mucosa of larynx (human) RGD PMID:23259294 RGD:152177474 NCBI chr 4:152,060,781...152,073,628
Ensembl chr 4:150,388,325...150,401,168 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 exacerbates ISO protein:increased expression: mucosa of larynx (human) RGD PMID:23259294 RGD:152177474 NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease susceptibility ISO DNA:missense mutation:CDS:p.D1104H (human) RGD PMID:19444904 RGD:155260337 NCBI chr 9:53,801,471...53,846,611
Ensembl chr 9:46,309,389...46,354,472 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO DNA:missense mutation:CDS:p.R1230P (human) RGD PMID:19444904 RGD:155260337 NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Gpx1 glutathione peroxidase 1 susceptibility ISO DNA:missense mutation:CDS: (rs1050450) (human) RGD PMID:23516596 RGD:152998903 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion: : RGD PMID:19252926 RGD:4140943 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO RGD PMID:10067818 RGD:5135043 NCBI chr 2:198,295,442...198,300,742
Ensembl chr 2:195,607,289...195,612,475 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO RGD PMID:10067818 RGD:5135043 NCBI chr 2:198,219,769...198,222,732
Ensembl chr 2:195,531,495...195,534,553 		JBrowse link
G Map2k7 mitogen activated protein kinase kinase 7 ameliorates ISO mRNA:increased expression:larynx (human) RGD PMID:32791689 RGD:155256869 NCBI chr12:7,389,032...7,398,377
Ensembl chr12:2,591,219...2,604,222 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 onset ISO DNA:insertion:Cds: 3020_3021insC (human) RGD PMID:20223031 RGD:5131515 NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO RGD PMID:20967863 RGD:126925200 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    sensory system disease 7375
      Otorhinolaryngologic Diseases 1800
        laryngeal disease 69
          Laryngeal Neoplasms 50
            Laryngeal Papillomatosis 3
            laryngeal benign neoplasm + 0
            larynx cancer + 40
            larynx carcinoma in situ 0
Path 2
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13617
      Signs and Symptoms 11204
        Neurologic Manifestations 10440
          sensory system disease 7375
            Otorhinolaryngologic Diseases 1800
              Otorhinolaryngologic Neoplasms 257
                Laryngeal Neoplasms 50
                  Laryngeal Papillomatosis 3
                  laryngeal benign neoplasm + 0
                  larynx cancer + 40
                  larynx carcinoma in situ 0
paths to the root