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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:nasopharynx carcinoma
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Accession:DOID:9261 term browser browse the term
Definition:A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract. (DO)
Synonyms:exact_synonym: NPC;   NPCA;   cancer of nasopharynx;   cancer of the nasopharynx;   malignant nasopharyngeal tumor;   malignant neoplasm of nasopharynx;   nasopharyngeal cancer;   nasopharyngeal cancers;   nasopharyngeal carcinoma;   nasopharynx cancer
 related_synonym: NPCA1;   NPCA2;   NPCA3;   carcinoma of nasopharynx;   nasopharyngeal carcinoma, susceptibility to, 1;   nasopharyngeal carcinoma, susceptibility to, 2;   nasopharyngeal carcinoma, susceptibility to, 3
 primary_id: OMIM:607107
 alt_id: OMIM:161550;   OMIM:617075
 xref: GARD:7163;   ICD10CM:C11;   ICD10CM:C11.0;   ICD10CM:C11.1;   ICD10CM:C11.2;   ICD10CM:C11.3;   ICD9CM:147;   ICD9CM:147.0;   ICD9CM:147.1;   ICD9CM:147.2;   ICD9CM:147.3;   NCI:C3871;   NCI:C9321;   ORDO:150
For additional species annotation, visit the Alliance of Genome Resources.


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nasopharynx carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A disease_progression ISO protein:decreased expression:nasopharynx(human) RGD PMID:31213911 RGD:126781707 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
JBrowse link
G ATM ATM serine/threonine kinase treatment ISO protein:decreased expression:epithelium of nasopharynx (human)
associated with Epstein-Barr Virus Infections;mRNA:decreased expression:nasopharyngeal tissue (human)
RGD PMID:19142888 PMID:28820634 PMID:29230817 RGD:126779560 RGD:126790562 RGD:150340692 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G ATR ATR serine/threonine kinase treatment ISO RGD PMID:28820634 RGD:150340692 NCBI chr 3:139,482,606...139,612,274
Ensembl chr 3:147,075,185...147,196,261
JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO protein:increased expression:epithelium of nasopharynx (human) RGD PMID:12099337 RGD:11526103 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO DNA:nonsense mutation: :p.Q563* (human) RGD PMID:28857155 RGD:127229936 NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
JBrowse link
G CD163 CD163 molecule exacerbates ISO protein:increased expression:nasopharynx, macrophage (human) RGD PMID:28395580 RGD:127285800 NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
JBrowse link
G CR2 complement C3d receptor 2 susceptibility ISO DNA:SNP:5'UTR:24T>C (rs3813946)(human) RGD PMID:23612877 RGD:127338247 NCBI chr 1:183,052,798...183,088,385
Ensembl chr 1:187,330,483...187,366,069
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO DNA:SNP: :rs2031920 (human) RGD PMID:26582733 RGD:11061495 Ensembl chr10:134,839,025...134,852,719 JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:24825912 RGD:126781774 NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression ISO mRNA, protein:increased expression:ventral nasal meatus RGD PMID:21300475 RGD:126779603 NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 disease_progression ISO RGD PMID:16480593 RGD:126925191 NCBI chr13:9,584,850...9,779,542 JBrowse link
G GSTM1 glutathione S-transferase mu 1 no_association ISO DNA:SNP: :1270533T>G (human) RGD PMID:19448408 PMID:24711137 RGD:14700933 RGD:14700955 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G JAK2 Janus kinase 2 severity ISO protein:increased expression:mucosa of nasopharynx (human) RGD PMID:30123088 RGD:149735327 NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
JBrowse link
G KDM3A lysine demethylase 3A severity ISO protein:decreased expression:nasopharyngeal epithelium (human) RGD PMID:21541331 RGD:9590228 NCBI chr2A:86,497,531...86,548,772 JBrowse link
G KDR kinase insert domain receptor disease_progression ISO RGD PMID:16480593 RGD:126925191 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G MST1R macrophage stimulating 1 receptor susceptibility ISO ClinVar Annotator: match by term: Nasopharyngeal carcinoma, susceptibility to, 3 ClinVar
OMIM
PMID:26951679 NCBI chr 3:49,818,538...49,835,713
Ensembl chr 3:51,054,795...51,072,401
JBrowse link
G PPIA peptidylprolyl isomerase A ISO mRNA, protein:increased expression:blood serum, nasopharynx, extracellular exosome (human) RGD PMID:31063269 RGD:150429622 NCBI chr 7:45,510,450...45,515,448
Ensembl chr 7:45,578,765...45,605,545
JBrowse link
G SNRPD1 small nuclear ribonucleoprotein D1 polypeptide ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr18:14,851,041...14,869,042
Ensembl chr18:18,488,929...18,506,284
JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr 1:179,466,263...179,474,779
Ensembl chr 1:183,755,392...183,764,937
JBrowse link
G SNRPF small nuclear ribonucleoprotein polypeptide F ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr12:93,452,446...93,459,691
Ensembl chr12:96,841,638...96,886,039
JBrowse link
G SNRPG small nuclear ribonucleoprotein polypeptide G ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr2A:70,335,547...70,347,970
Ensembl chr2A:71,451,225...71,463,884
JBrowse link
G STAT3 signal transducer and activator of transcription 3 severity ISO protein:increased expression:mucosa of nasopharynx (human) RGD PMID:30123088 RGD:149735327 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 severity ISO human cells in mouse model RGD PMID:32774157 RGD:150429610 NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400
JBrowse link
G TP53 tumor protein p53 ISO OMIM NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G VEGFA vascular endothelial growth factor A disease_progression
severity
ISO protein:increased expression:mucosa of nasopharynx (human) RGD PMID:16480593 PMID:30123088 RGD:126925191 RGD:149735327 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO associated with Epstein-Barr Virus Infections; protein:increased expression:nasopharynx epithelium RGD PMID:28607398 RGD:21081524 NCBI chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13850
    disease of anatomical entity 13507
      respiratory system disease 2610
        Respiratory Tract Neoplasms 786
          respiratory system cancer 537
            nasopharynx carcinoma 26
              lymphoepithelioma-like carcinoma 0
Path 2
Term Annotations click to browse term
  disease 13850
    disease of anatomical entity 13507
      nervous system disease 11185
        sensory system disease 5155
          Otorhinolaryngologic Diseases 1213
            Pharyngeal Diseases 172
              Pharyngeal Neoplasms 145
                pharynx cancer 132
                  nasopharynx carcinoma 26
                    lymphoepithelioma-like carcinoma 0
paths to the root