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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 IEP protein:decreased expression:nasopharynx(human) RGD PMID:31213911 RGD:126781707 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G ATM ATM serine/threonine kinase treatment IEP protein:decreased expression:epithelium of nasopharynx (human)
associated with Epstein-Barr Virus Infections;mRNA:decreased expression:nasopharyngeal tissue (human)
RGD PMID:29230817 PMID:19142888 PMID:28820634 RGD:126779560, RGD:126790562, RGD:150340692 NCBI chr11:108,222,484...108,369,102
Ensembl chr11:108,223,044...108,369,102
JBrowse link
G ATR ATR serine/threonine kinase treatment IEP RGD PMID:28820634 RGD:150340692 NCBI chr 3:142,449,235...142,578,793
Ensembl chr 3:142,449,007...142,578,733
JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression IEP protein:increased expression:epithelium of nasopharynx (human) RGD PMID:12099337 RGD:11526103 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP DNA:nonsense mutation: :p.Q563* (human) RGD PMID:28857155 RGD:127229936 NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G CD163 CD163 molecule exacerbates IEP protein:increased expression:nasopharynx, macrophage (human) RGD PMID:28395580 RGD:127285800 NCBI chr12:7,470,811...7,503,808
Ensembl chr12:7,470,811...7,503,893
JBrowse link
G CR2 complement C3d receptor 2 susceptibility IAGP DNA:SNP:5'UTR:24T>C (rs3813946)(human) RGD PMID:23612877 RGD:127338247 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,454,230...207,489,895
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 IAGP DNA:SNP: :rs2031920 (human) RGD PMID:26582733 RGD:11061495 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IEP mRNA:increased expression:epithelium of nasopharynx RGD PMID:18023033 RGD:150429715 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 disease_progression IEP RGD PMID:24825912 RGD:126781774 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression IEP mRNA, protein:increased expression:ventral nasal meatus RGD PMID:21300475 RGD:126779603 NCBI chr 7:148,807,374...148,884,344
Ensembl chr 7:148,807,257...148,884,321
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 disease_progression IEP RGD PMID:16480593 RGD:126925191 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G GSTM1 glutathione S-transferase mu 1 no_association IEP
IAGP
DNA:SNP: :1270533T>G (human) RGD PMID:24711137 PMID:19448408 RGD:14700933, RGD:14700955 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G JAK2 Janus kinase 2 severity IEP protein:increased expression:mucosa of nasopharynx (human) RGD PMID:30123088 RGD:149735327 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KDM3A lysine demethylase 3A severity IEP protein:decreased expression:nasopharyngeal epithelium (human) RGD PMID:21541331 RGD:9590228 NCBI chr 2:86,440,647...86,492,716
Ensembl chr 2:86,440,647...86,492,716
JBrowse link
G KDR kinase insert domain receptor disease_progression IEP RGD PMID:16480593 RGD:126925191 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G MIR152 microRNA 152 IEP miRNA:decreased expression:nasopharynx RGD PMID:28000885 RGD:19165149 NCBI chr17:48,037,161...48,037,247
Ensembl chr17:48,037,161...48,037,247
JBrowse link
G MST1R macrophage stimulating 1 receptor susceptibility IAGP ClinVar Annotator: match by term: Nasopharyngeal carcinoma, susceptibility to, 3 ClinVar
OMIM
PMID:26951679 NCBI chr 3:49,886,471...49,903,873
Ensembl chr 3:49,887,002...49,903,873
JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming ISO RGD PMID:19068094 RGD:2325214 NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
JBrowse link
G PPIA peptidylprolyl isomerase A IEP mRNA, protein:increased expression:blood serum, nasopharynx, extracellular exosome (human) RGD PMID:31063269 RGD:150429622 NCBI chr 7:44,795,960...44,803,117
Ensembl chr 7:44,796,680...44,824,564
JBrowse link
G SNRPD1 small nuclear ribonucleoprotein D1 polypeptide IEP mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr18:21,612,314...21,633,520
Ensembl chr18:21,612,314...21,633,524
JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E IEP mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr 1:203,861,599...203,871,152
Ensembl chr 1:203,861,599...203,871,152
JBrowse link
G SNRPF small nuclear ribonucleoprotein polypeptide F IEP mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr12:95,858,952...95,866,140
Ensembl chr12:95,858,928...95,903,828
JBrowse link
G SNRPG small nuclear ribonucleoprotein polypeptide G IEP mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr 2:70,281,362...70,293,740
Ensembl chr 2:70,281,362...70,293,740
JBrowse link
G STAT3 signal transducer and activator of transcription 3 severity IEP protein:increased expression:mucosa of nasopharynx (human) RGD PMID:30123088 RGD:149735327 NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 severity IMP human cells in mouse model RGD PMID:32774157 RGD:150429610 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
G TP53 tumor protein p53 IDA
IAGP
ClinVar Annotator: match by term: Nasopharyngeal carcinoma ClinVar
OMIM
PMID:1565143 PMID:1565144 PMID:1631151 PMID:1683921 PMID:7732013 More... RGD:8547825 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G VEGFA vascular endothelial growth factor A disease_progression
severity
IEP protein:increased expression:mucosa of nasopharynx (human) RGD PMID:16480593 PMID:30123088 RGD:126925191, RGD:149735327 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IEP associated with Epstein-Barr Virus Infections; protein:increased expression:nasopharynx epithelium RGD PMID:28607398 RGD:21081524 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20257
    disease of anatomical entity 18858
      respiratory system disease 3099
        Respiratory Tract Neoplasms 884
          respiratory system cancer 589
            nasopharynx carcinoma 29
              lymphoepithelioma-like carcinoma 0
Path 2
Term Annotations click to browse term
  disease 20257
    disease of anatomical entity 18858
      nervous system disease 14839
        sensory system disease 6161
          Otorhinolaryngologic Diseases 1469
            Pharyngeal Diseases 189
              Pharyngeal Neoplasms 156
                pharynx cancer 140
                  nasopharynx carcinoma 29
                    lymphoepithelioma-like carcinoma 0
paths to the root