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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 chr 6:117,145,496...117,158,329
Ensembl chr 6:117,145,496...117,158,328 		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 chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030 		JBrowse link
G Ercc5 excision repair cross-complementing rodent repair deficiency, complementation group 5 susceptibility ISO DNA:missense mutation:CDS:p.D1104H (human) RGD PMID:19444904 RGD:155260337 NCBI chr 1:44,184,084...44,220,399
Ensembl chr 1:44,186,904...44,220,420 		JBrowse link
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 susceptibility ISO DNA:missense mutation:CDS:p.R1230P (human) RGD PMID:19444904 RGD:155260337 NCBI chr14:32,235,248...32,302,947
Ensembl chr14:32,235,478...32,302,947 		JBrowse link
G Gpx1 glutathione peroxidase 1 susceptibility ISO DNA:missense mutation:CDS: (rs1050450) (human) RGD PMID:23516596 RGD:152998903 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO DNA:deletion: : RGD PMID:19252926 RGD:4140943 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO RGD PMID:10067818 RGD:5135043 NCBI chr 3:107,803,240...107,806,002
Ensembl chr 3:107,803,137...107,806,002 		JBrowse link
G Map2k7 mitogen-activated protein kinase kinase 7 ameliorates ISO mRNA:increased expression:larynx (human) RGD PMID:32791689 RGD:155256869 NCBI chr 8:4,288,740...4,297,897
Ensembl chr 8:4,288,740...4,297,897
Ensembl chr 8:4,288,740...4,297,897 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 onset ISO DNA:insertion:Cds: 3020_3021insC (human) RGD PMID:20223031 RGD:5131515 NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102 		JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO RGD PMID:20967863 RGD:126925200 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		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 Trp53 disease_progression ISO RGD PMID:28849066 RGD:21081521 NCBI chr11:69,452,580...69,471,076
Ensembl chr11:69,452,584...69,471,081 		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 1:90,131,702...90,143,446
Ensembl chr 1:90,131,702...90,144,473 		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 chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030 		JBrowse link
G Kmt2c lysine (K)-specific methyltransferase 2C ISO mRNA:decreased expression:larynx RGD PMID:25633166 RGD:151356763 NCBI chr 5:25,476,793...25,703,853
Ensembl chr 5:25,476,796...25,703,781 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 severity ISO RGD PMID:20164024 RGD:150573814 NCBI chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400 		JBrowse link
G Traf6 TNF receptor-associated factor 6 disease_progression ISO RGD PMID:20164024 RGD:150573814 NCBI chr 2:101,508,765...101,532,013
Ensembl chr 2:101,508,774...101,532,014 		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 chr15:37,966,421...38,084,103
Ensembl chr15:37,967,572...38,079,098 		JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 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 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865 		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 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Cat catalase ISO protein:increased activity:larynx RGD PMID:8138195 RGD:152995273 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Cdc73 cell division cycle 73, Paf1/RNA polymerase II complex component disease_progression ISO protein:decreased expression:larynx (human) RGD PMID:27334641 RGD:150539447 NCBI chr 1:143,479,014...143,578,631
Ensembl chr 1:143,474,538...143,578,631 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO RGD PMID:15646812 RGD:8662837 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 exacerbates ISO mRNA:increased expression:larynx (human) RGD PMID:33315534 RGD:153323310 NCBI chr 6:125,073,144...125,107,554
Ensembl chr 6:125,072,944...125,107,554 		JBrowse link
G Egfr epidermal growth factor receptor disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218 		JBrowse link
G Foxl2 forkhead box L2 exacerbates ISO mRNA:increased expression:larynx (human) RGD PMID:32517588 RGD:151667913 NCBI chr 9:98,837,495...98,840,601
Ensembl chr 9:98,837,341...98,840,596 		JBrowse link
G Gpx1 glutathione peroxidase 1 disease_progression
no_association		 ISO protein:increased expression:larynx (human)
DNA:missense mutation:CDS:p.P198L (rs1050450) (human)
DNA:missense mutation:CDS:p.P198L (human)		 RGD PMID:28641905 PMID:27188866 PMID:24074040 RGD:152995454, RGD:152995455, RGD:152995493 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		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 chr11:65,579,070...65,679,185
Ensembl chr11:65,579,069...65,679,123 		JBrowse link
G Mir10a microRNA 10a severity ISO miRNA:decreased expression:blood serum (human) RGD PMID:35117730 RGD:153344530 NCBI chr11:96,207,991...96,208,100
Ensembl chr11:96,207,991...96,208,100 		JBrowse link
G Mir136 microRNA 136 ISO RNA:decreased expression:larynx (human) RGD PMID:32014687 RGD:153344610 NCBI chr12:109,561,761...109,561,822
Ensembl chr12:109,561,761...109,561,822 		JBrowse link
G Mir21a microRNA 21a exacerbates ISO miRNA:increased expression:blood serum (human) RGD PMID:35117730 RGD:153344530 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		JBrowse link
G Mir31 microRNA 31 disease_progression ISO RNA:decreased expression:mucosa of larynx (human) RGD PMID:29737563 RGD:152998933 NCBI chr 4:88,828,794...88,828,899
Ensembl chr 4:88,828,794...88,828,899 		JBrowse link
G Mlh1 mutL homolog 1 disease_progression ISO mRNA:decreased expression:larynx RGD PMID:23787767 RGD:126848783 NCBI chr 9:111,057,296...111,100,854
Ensembl chr 9:111,057,296...111,100,859 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:17786346 RGD:5130203 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Msh2 mutS homolog 2 disease_progression ISO mRNA:decreased expression:larynx RGD PMID:23787767 RGD:126848783 NCBI chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141 		JBrowse link
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) susceptibility ISO DNA:polymorphisms: : RGD PMID:19922706 PMID:16155914 RGD:5131602, RGD:5131856 NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236 		JBrowse link
G Plcg1 phospholipase C, gamma 1 ameliorates ISO mRNA:increased expression:larynx (human) RGD PMID:33466212 RGD:151665160 NCBI chr 2:160,573,230...160,617,680
Ensembl chr 2:160,573,220...160,617,680 		JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) severity ISO associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human) RGD PMID:19513509 RGD:150429781 NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158 		JBrowse link
G Xdh xanthine dehydrogenase ISO protein:increased activity:larynx RGD PMID:8138195 RGD:152995273 NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191 		JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 ISO ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma ClinVar NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    sensory system disease 6747
      Otorhinolaryngologic Diseases 1733
        Otorhinolaryngologic Neoplasms 267
          Laryngeal Neoplasms 51
            larynx cancer 39
              glottis cancer + 1
              laryngeal carcinoma + 30
              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 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Neurologic Manifestations 9790
          sensory system disease 6747
            Otorhinolaryngologic Diseases 1733
              laryngeal disease 70
                Laryngeal Neoplasms 51
                  larynx cancer 39
                    glottis cancer + 1
                    laryngeal carcinoma + 30
                    laryngeal cartilage cancer 0
                    laryngeal neuroendocrine tumor 0
                    larynx sarcoma + 0
                    subglottis cancer + 0
                    supraglottis cancer + 0
paths to the root