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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:nasopharyngeal disease
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Accession:DOID:9561 term browser browse the term
Definition:Pathological processes involving the NASOPHARYNX.
Synonyms:exact_synonym: Diseases of Nasopharynx;   Nasopharynx Disease;   Nasopharynx Diseases;   nasopharyngeal diseases
 primary_id: MESH:D009302
 xref: NCI:C35723


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Nasopharyngeal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd1 cyclin D1 onset ISO DNA:polymorphism: :870A>G RGD PMID:18355450 RGD:2296033 NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Ctps1 CTP synthase 1 ISO mRNA:increased expression:nasopharynx (human) RGD PMID:19302751 RGD:5132859 NCBI chr 5:139,372,349...139,440,441
Ensembl chr 5:134,125,025...134,154,180 		JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17032313 NCBI chr19:47,137,360...47,207,961
Ensembl chr19:30,233,571...30,297,049 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21786012 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:20512145 NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:112,909,321...113,464,590 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17607721 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Rassf2 Ras association domain family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17013896 NCBI chr 3:139,697,187...139,733,402
Ensembl chr 3:119,245,821...119,280,431 		JBrowse link
G Tnfrsf19 TNF receptor superfamily member 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20512145 NCBI chr15:39,268,305...39,334,566
Ensembl chr15:35,092,206...35,180,795 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:1631151 PMID:6736287 PMID:7707106 PMID:7885831 PMID:8023157 More... RGD:1331525 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Wif1 Wnt inhibitory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17384664 NCBI chr 7:58,433,326...58,503,853
Ensembl chr 7:56,548,053...56,618,360 		JBrowse link
nasopharyngitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO mRNA:decreased expression:epithelium of nasopharynx RGD PMID:23001130 RGD:150523839 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
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 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564 		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:29230817 PMID:19142888 PMID:28820634 RGD:126779560, RGD:126790562, RGD:150340692 NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atr ATR serine/threonine kinase treatment ISO RGD PMID:28820634 RGD:150340692 NCBI chr 8:105,306,299...105,403,742
Ensembl chr 8:96,426,724...96,524,136 		JBrowse link
G Bcl2 BCL2, apoptosis regulator disease_progression ISO protein:increased expression:epithelium of nasopharynx (human) RGD PMID:12099337 RGD:11526103 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Brca1 BRCA1, DNA repair associated ISO DNA:nonsense mutation: :p.Q563* (human) RGD PMID:28857155 RGD:127229936 NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,418,000...86,477,304 		JBrowse link
G Btk Bruton tyrosine kinase ISO mRNA:decreased expression:nasopharynx (human) RGD PMID:33096113 RGD:151347855 NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Calr calreticulin exacerbates
disease_progression		 ISO protein:increased expression:epithelium of nasopharynx (human) RGD PMID:31632490 PMID:31956372 RGD:150520157, RGD:150521689 NCBI chr19:40,213,367...40,218,262
Ensembl chr19:23,308,351...23,313,414 		JBrowse link
G Ccnd2 cyclin D2 disease_progression ISO RGD PMID:20473882 RGD:151665334 NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Cd163 CD163 molecule exacerbates ISO protein:increased expression:nasopharynx, macrophage (human) RGD PMID:28395580 RGD:127285800 NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Chrna5 cholinergic receptor nicotinic alpha 5 subunit susceptibility ISO DNA:SNP: :rs3841324(human) RGD PMID:25329654 RGD:150527838 NCBI chr 8:64,265,879...64,294,233
Ensembl chr 8:55,369,794...55,398,146 		JBrowse link
G Clptm1l CLPTM1-like susceptibility ISO DNA:SNP: :rs401681(human)
protein:increased expression:nasopharynx
DNA:SNP:intron:rs31489(human) 		RGD PMID:26621837 PMID:26621837 PMID:26545403 PMID:31270100 RGD:11564613, RGD:11564613, RGD:11556976, RGD:150537099 NCBI chr 1:31,496,094...31,512,148
Ensembl chr 1:29,667,545...29,683,530 		JBrowse link
G Cr2 complement C3d receptor 2 susceptibility ISO DNA:SNP:5'UTR:24T>C (rs3813946)(human) RGD PMID:23612877 RGD:127338247 NCBI chr13:109,207,034...109,244,980
Ensembl chr13:106,685,413...106,716,235 		JBrowse link
G Csf1r colony stimulating factor 1 receptor treatment ISO RGD PMID:22267178 RGD:150524299 NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression
exacerbates		 ISO mRNA:increased expression:nasopharynx (human)
protein:increased expression:nasopharynx (human)		 RGD PMID:26611644 PMID:15978137 RGD:152023644, RGD:152177484 NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:SNP: :rs2031920 (human) RGD PMID:26582733 RGD:11061495 NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:195,840,058...195,864,023 		JBrowse link
G Dab2ip DAB2 interacting protein disease_progression ISO mRNA,protein:decreased expression:epithelium of nasopharynx (human) RGD PMID:28586035 RGD:151665144 NCBI chr 3:39,312,745...39,483,730
Ensembl chr 3:18,915,290...19,086,280 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO mRNA:increased expression:epithelium of nasopharynx RGD PMID:18023033 RGD:150429715 NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Efnb2 ephrin B2 disease_progression ISO protein:increased expression:nasopharynx (human) RGD PMID:23631129 RGD:153305949 NCBI chr16:87,485,215...87,529,224
Ensembl chr16:80,783,417...80,824,391 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:24825912 RGD:126781774 NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:996,225...1,015,525 		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 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 severity ISO protein:increased expression:nasopharynx (human) RGD PMID:26535066 RGD:150520063 NCBI chr17:9,466,686...9,481,423
Ensembl chr17:9,461,547...9,476,242 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 disease_progression ISO RGD PMID:16480593 RGD:126925191 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISO mRNA:increased expression:nasopharynx (human) RGD PMID:30326930 RGD:153344557 NCBI chr 6:30,017,952...30,039,269
Ensembl chr 6:24,300,956...24,320,034 		JBrowse link
G Fubp1 far upstream element binding protein 1 exacerbates ISO protein:increased expression:nasopharynx (human) RGD PMID:26469968 RGD:11343512 NCBI chr 2:243,819,529...243,846,544
Ensembl chr 2:241,159,512...241,186,602 		JBrowse link
G Gpx1 glutathione peroxidase 1 susceptibility ISO DNA:missense mutation:CDS:p.P198L (human) RGD PMID:33616746 RGD:152995452 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO protein:decreased expression:nasopharynx (human) RGD PMID:26681223 RGD:150539449 NCBI chr10:6,136,458...6,560,003
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 no_association ISO DNA:SNP: :1270533T>G (human) RGD PMID:24711137 PMID:19448408 RGD:14700933, RGD:14700955 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Jak2 Janus kinase 2 severity ISO protein:increased expression:mucosa of nasopharynx (human) RGD PMID:30123088 RGD:149735327 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Kdm3a lysine demethylase 3A severity ISO protein:decreased expression:nasopharyngeal epithelium (human) RGD PMID:21541331 RGD:9590228 NCBI chr 4:105,189,208...105,233,526
Ensembl chr 4:103,630,908...103,675,073 		JBrowse link
G Kdr kinase insert domain receptor disease_progression ISO RGD PMID:16480593 RGD:126925191 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO RGD PMID:31646828 RGD:151356762 NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:9,609,627...9,833,539 		JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 ameliorates ISO DNA:SNP:promoter: -1304T>G, -1304G>G (human)
associated with Epstein-Barr Virus Infections; DNA:SNPs:promoter: -1304G>G, -1304T>G (human)		 RGD PMID:27373035 PMID:21702039 RGD:150429759, RGD:150429763 NCBI chr10:50,842,348...50,947,063
Ensembl chr10:50,344,915...50,447,993 		JBrowse link
G Mapk14 mitogen activated protein kinase 14 treatment ISO human cell line in a mouse model RGD PMID:32449282 RGD:151665502 NCBI chr20:6,751,288...6,812,294
Ensembl chr20:6,749,670...6,810,589 		JBrowse link
G Mir132 microRNA 132 treatment ISO RGD PMID:29442000 RGD:151665745 NCBI chr10:60,522,033...60,522,133
Ensembl chr10:60,023,696...60,023,796 		JBrowse link
G Mir152 microRNA 152 ISO miRNA:decreased expression:nasopharynx RGD PMID:28000885 RGD:19165149 NCBI chr10:82,329,383...82,329,467
Ensembl chr10:81,832,936...81,833,020 		JBrowse link
G Mir154 microRNA 154 disease_progression ISO RNA:decreased expression:epithelium of nasopharynx (human) RGD PMID:32214824 RGD:152995464 NCBI chr 6:134,574,352...134,574,435
Ensembl chr 6:128,752,947...128,753,030 		JBrowse link
G Mir222 microRNA 222 ISO RNA:increased expression:nasopharynx RGD PMID:29115464 RGD:151708744 NCBI chr  X:6,022,621...6,022,723
Ensembl chr  X:3,428,904...3,429,006 		JBrowse link
G Mir31 microRNA 31 disease_progression
ameliorates		 ISO RNA:decreased expression:peripheral blood mononuclear cell (human)
Human cells in mouse model		 RGD PMID:31129965 PMID:25098679 RGD:152998936, RGD:152998921 NCBI chr 5:108,714,849...108,714,954 JBrowse link
G Mir423 microRNA 423 disease_progression ISO mRNA:decreased expression:nasopharynx (human) RGD PMID:30326930 RGD:153344557 NCBI chr10:62,412,272...62,412,350
Ensembl chr10:61,914,133...61,914,226 		JBrowse link
G Mst1r macrophage stimulating 1 receptor susceptibility ISO ClinVar Annotator: match by term: MST1R-related condition | ClinVar Annotator: match by term: Nasopharyngeal carcinoma, susceptibility to, 3 OMIM
ClinVar		 PMID:25741868 PMID:26951679 PMID:28492532 NCBI chr 8:117,471,928...117,491,059
Ensembl chr 8:108,597,299...108,612,455 		JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming IEP RGD PMID:19068094 RGD:2325214 NCBI chr 1:206,346,400...206,378,367
Ensembl chr 1:196,916,825...196,949,250 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Nasopharyngeal carcinoma ClinVar PMID:10480349 PMID:11182931 PMID:11333381 PMID:11349231 PMID:12408188 More... NCBI chr18:3,654,237...3,699,853
Ensembl chr18:3,379,482...3,425,049 		JBrowse link
G Ppia peptidylprolyl isomerase A ISO mRNA, protein:increased expression:blood serum, nasopharynx, extracellular exosome (human) RGD PMID:31063269 RGD:150429622 NCBI chr14:85,491,223...85,496,884
Ensembl chr14:81,275,091...81,299,601 		JBrowse link
G Rac1 Rac family small GTPase 1 exacerbates ISO protein:increased expression:nasopharynx (human) RGD PMID:19506399 RGD:153350125 NCBI chr12:16,150,411...16,170,864
Ensembl chr12:11,036,698...11,057,251 		JBrowse link
G Rad52 RAD52 homolog, DNA repair protein severity ISO protein:increased expression:nasopharynx (human) RGD PMID:25026830 RGD:151361208 NCBI chr 4:154,778,320...154,802,002
Ensembl chr 4:153,106,062...153,128,207 		JBrowse link
G Snrpd1 small nuclear ribonucleoprotein D1 polypeptide ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr18:1,969,351...1,980,207
Ensembl chr18:1,696,852...1,708,256 		JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr13:47,596,324...47,609,390
Ensembl chr13:45,050,986...45,057,310
Ensembl chr 8:45,050,986...45,057,310 		JBrowse link
G Snrpf small nuclear ribonucleoprotein polypeptide F ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr 7:30,017,460...30,024,162
Ensembl chr 7:28,130,427...28,137,129 		JBrowse link
G Snrpg small nuclear ribonucleoprotein polypeptide G ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr 4:120,369,676...120,377,263
Ensembl chr 4:118,812,252...118,819,826
Ensembl chr  X:118,812,252...118,819,826 		JBrowse link
G Spen spen family transcriptional repressor disease_progression ISO protein:increased expression:mucosa of nasopharynx (human) RGD PMID:32641685 RGD:151347437 NCBI chr 5:159,058,258...159,131,789
Ensembl chr 5:153,776,234...153,848,811 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase disease_progression ISO RGD PMID:27078847 RGD:150521726 NCBI chr 3:166,511,616...166,559,463
Ensembl chr 3:146,091,841...146,139,476 		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 chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tert telomerase reverse transcriptase ISO protein:increased expression:nasopharynx RGD PMID:26621837 RGD:11564613 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 severity ISO human cells in mouse model RGD PMID:32774157 RGD:150429610 NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534 		JBrowse link
G Tnfaip3 TNF alpha induced protein 3 treatment ISO RGD PMID:26149137 RGD:151347434 NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:13,709,206...13,725,282 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Nasopharyngeal carcinoma ClinVar
OMIM
RGD		 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1631151 More... RGD:8547825 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression
severity		 ISO protein:increased expression:mucosa of nasopharynx (human)
protein:increased expression:nasopharynx (human)		 RGD PMID:16480593 PMID:30123088 PMID:23631129 RGD:126925191, RGD:149735327, RGD:153305949 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		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 chr10:54,780,873...54,797,919
Ensembl chr10:54,282,105...54,298,929 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 treatment
sexual_dimorphism
susceptibility		 ISO DNA:SNP:3'utr: (rs25489) (human)
DNA:missense mutation:cds: p.R194W (human)
associated with Tobacco Use Disorder; DNA:missense mutation:cds: p.R399Q (human)
DNA:missense mutation:exon 10: p.R399Q G>A, (rs25487) (human)		 RGD PMID:29108254 PMID:16796765 PMID:27356695 PMID:24175791 PMID:17630853 RGD:150530619, RGD:150573694, RGD:150573697, RGD:150573698, RGD:150573708 NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Stomatognathic Diseases 1373
      Pharyngeal Diseases 261
        nasopharyngeal disease 69
          Nasopharyngeal Neoplasms + 68
          nasopharyngitis 1
Path 2
Term Annotations click to browse term
  disease 19140
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11222
        Neurologic Manifestations 10464
          sensory system disease 7381
            Otorhinolaryngologic Diseases 1798
              Pharyngeal Diseases 261
                nasopharyngeal disease 69
                  Nasopharyngeal Neoplasms + 68
                  nasopharyngitis 1
paths to the root