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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:larynx cancer
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Accession:DOID:2596 term browser browse the term
Definition:A respiratory system cancer that is located_in the larynx. (DO)
Synonyms:exact_synonym: Malignant Laryngeal Neoplasm;   laryngeal cancer;   laryngeal cancers;   larynx cancers
 xref: EFO:1000354;   GARD:6862;   ICD10CM:C32;   ICD9CM:161;   NCI:C7484
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231 		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 chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease susceptibility ISO DNA:missense mutation:CDS:p.D1104H (human) RGD PMID:19444904 RGD:155260337 NCBI chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182 		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 chr10:44,703,720...44,784,948 JBrowse link
G GPX1 glutathione peroxidase 1 susceptibility ISO DNA:missense mutation:CDS: (rs1050450) (human) RGD PMID:23516596 RGD:152998903 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO DNA:deletion: : RGD PMID:19252926 RGD:4140943 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G GSTM3 glutathione S-transferase mu 3 ISO RGD PMID:10067818 RGD:5135043 NCBI chr 1:112,380,890...112,384,988
Ensembl chr 1:127,957,008...127,960,578 		JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 ameliorates ISO mRNA:increased expression:larynx (human) RGD PMID:32791689 RGD:155256869 NCBI chr19:7,205,124...7,215,776
Ensembl chr19:8,057,598...8,066,512 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 onset ISO DNA:insertion:Cds: 3020_3021insC (human) RGD PMID:20223031 RGD:5131515 NCBI chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773 		JBrowse link
G VEGFA vascular endothelial growth factor A treatment ISO RGD PMID:20967863 RGD:126925200 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		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 chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394 		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 chr2B:123,795,664...123,810,067
Ensembl chr2B:242,666,173...242,667,261 		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 chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647 		JBrowse link
G KMT2C lysine methyltransferase 2C ISO mRNA:decreased expression:larynx RGD PMID:25633166 RGD:151356763 NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 severity ISO RGD PMID:20164024 RGD:150573814 NCBI chr16:10,196,432...10,198,205 JBrowse link
G TRAF6 TNF receptor associated factor 6 disease_progression ISO RGD PMID:20164024 RGD:150573814 NCBI chr11:36,457,633...36,483,616
Ensembl chr11:36,335,609...36,356,334 		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 8:98,904,557...99,064,121
Ensembl chr 8:101,067,435...101,224,913 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility ISO DNA:SNPs, haplotype:: (rs3213403, rs1799778, rs3213282) (human)
DNA:missense mutation:cds: p.R280H (human)		 RGD PMID:24956286 PMID:27808358 RGD:151236313 RGD:151236314 NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520 		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 chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868 		JBrowse link
G CAT catalase ISO protein:increased activity:larynx RGD PMID:8138195 RGD:152995273 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160 		JBrowse link
G CDC73 cell division cycle 73 disease_progression ISO protein:decreased expression:larynx (human) RGD PMID:27334641 RGD:150539447 NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO RGD PMID:15646812 RGD:8662837 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 exacerbates ISO mRNA:increased expression:larynx (human) RGD PMID:33315534 RGD:153323310 NCBI chr12:6,701,004...6,738,621
Ensembl chr12:6,619,089...6,656,076 		JBrowse link
G EGFR epidermal growth factor receptor disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006 		JBrowse link
G FOXL2 forkhead box L2 exacerbates ISO mRNA:increased expression:larynx (human) RGD PMID:32517588 RGD:151667913 NCBI chr 3:135,968,040...135,980,063 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:24074040 PMID:27188866 PMID:28641905 RGD:152995454 RGD:152995455 RGD:152995493 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826 		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 chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909 		JBrowse link
G MLH1 mutL homolog 1 disease_progression ISO mRNA:decreased expression:larynx RGD PMID:23787767 RGD:126848783 NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:17786346 RGD:5130203 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G MSH2 mutS homolog 2 disease_progression ISO mRNA:decreased expression:larynx RGD PMID:23787767 RGD:126848783 NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461 		JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:16155914 PMID:19922706 RGD:5131602 RGD:5131856 NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327 		JBrowse link
G PLCG1 phospholipase C gamma 1 ameliorates ISO mRNA:increased expression:larynx (human) RGD PMID:33466212 RGD:151665160 NCBI chr20:37,477,077...37,515,854
Ensembl chr20:38,572,709...38,615,145 		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 chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868 		JBrowse link
G XDH xanthine dehydrogenase ISO protein:increased activity:larynx RGD PMID:8138195 RGD:152995273 NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma ClinVar NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6633
      Otorhinolaryngologic Diseases 1673
        Otorhinolaryngologic Neoplasms 254
          Laryngeal Neoplasms 45
            larynx cancer 35
              glottis cancer + 1
              laryngeal carcinoma + 26
              laryngeal cartilage cancer 0
              laryngeal neuroendocrine tumor 0
              larynx sarcoma + 0
              subglottis cancer + 0
              supraglottis cancer + 0
Path 2
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12039
      Signs and Symptoms 9970
        Neurologic Manifestations 9647
          sensory system disease 6633
            Otorhinolaryngologic Diseases 1673
              laryngeal disease 64
                Laryngeal Neoplasms 45
                  larynx cancer 35
                    glottis cancer + 1
                    laryngeal carcinoma + 26
                    laryngeal cartilage cancer 0
                    laryngeal neuroendocrine tumor 0
                    larynx sarcoma + 0
                    subglottis cancer + 0
                    supraglottis cancer + 0
paths to the root