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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:upper respiratory tract disease
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Accession:DOID:974 term browser browse the term
Definition:A respiratory system disease which involves the upper respiratory tract. (DO)
Synonyms:exact_synonym: upper respiratory tract disorder
 xref: ICD9CM:478.19;   MONDO:0004867


show annotations for term's descendants           Sort by:
adenoiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Chronic adenoiditis ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
allergic rhinitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A severity ISO DNA:snp:exon:c.1236C>T (human) RGD PMID:24040855 RGD:8657076 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Ace angiotensin I converting enzyme no_association ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15112973 RGD:8142345 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA, protein:increased expression:nasal mucosa (rat) RGD PMID:15362690 RGD:11522724 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29028686 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 treatment IDA RGD PMID:23089405 RGD:7248414 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926 		JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:oronasal secretion (human) RGD PMID:23883806 RGD:7364793 NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335 		JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:lymphocyte RGD PMID:19086656 RGD:8547782 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:lymphocyte RGD PMID:19086656 RGD:8547782 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cldn3 claudin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33441633 NCBI chr12:21,708,538...21,710,010
Ensembl chr12:21,708,398...21,711,001 		JBrowse link
G Cldn7 claudin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33441633 NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment ISO RGD PMID:10436391 RGD:11344920 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:nasal mucus RGD PMID:21711961 RGD:5147783 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Fcgr3a Fc gamma receptor 3A susceptibility ISO DNA:polymorphism:exon:p.F158V(rs396991)(human) RGD PMID:18199088 RGD:5508449 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34624383 NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283 		JBrowse link
G Gria2 glutamate ionotropic receptor AMPA type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34624383 NCBI chr 2:165,949,379...166,069,510
Ensembl chr 2:165,947,521...166,069,510 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36127783 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hrh1 histamine receptor H 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23333628 NCBI chr 4:147,564,963...147,649,353
Ensembl chr 4:147,645,995...147,647,455 		JBrowse link
G Ifng interferon gamma treatment ISO
IDA		 associated with Asthma
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:29871060 PMID:12787306 PMID:18510219 RGD:7829803, RGD:10755770 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il10 interleukin 10 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:36127783 PMID:23883806 PMID:23253209 RGD:7364793, RGD:7364818 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il13 interleukin 13 susceptibility
no_association		 ISO DNA:polymorphism:exon:c. 2044G>A (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R130Q (rs20541) (human)
DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human)
DNA:SNP:promoter:-1512A>C (rs1881457) (human)		 CTD
OMIM
RGD		 PMID:17091279 PMID:22852128 PMID:12928861 PMID:23996716 RGD:4152796, RGD:8549518, RGD:8549516, RGD:8549501 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO protein:increased expression:serum RGD PMID:21462799 RGD:8549521 NCBI chr  X:111,002,590...111,074,053
Ensembl chr  X:111,002,592...111,072,381 		JBrowse link
G Il17a interleukin 17A susceptibility ISO DNA:snp:promoter:c.-444A>G (human)
mRNA:increased expression:peripheral blood mononuclear cell (human)		 RGD PMID:22507625 PMID:21535180 RGD:9068429, RGD:5147409 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il18 interleukin 18 severity
no_association		 ISO DNA:SNP:promoter:-137G>C (rs187238) (human)
DNA:SNP:promoter:-140C>G (rs360721) (human)		 RGD PMID:22840759 PMID:22840759 RGD:8655914, RGD:8655914 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:nasal mucus RGD PMID:7750009 RGD:7401199 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il2 interleukin 2 IEP RGD PMID:12592663 RGD:8662963 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il4 interleukin 4 treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:36127783 PMID:9893928 PMID:24620662 PMID:8908280 PMID:14653048 RGD:7829796, RGD:11522769, RGD:7829827, RGD:7829802 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il5 interleukin 5 treatment IEP RGD PMID:23934070 PMID:24620662 RGD:11354976, RGD:11522769 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Itgb2 integrin subunit beta 2 treatment IEP RGD PMID:12046991 RGD:9698435 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Mrc1 mannose receptor, C type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36127783 NCBI chr17:77,249,187...77,330,857
Ensembl chr17:77,249,187...77,330,857 		JBrowse link
G Muc1 mucin 1, cell surface associated severity ISO
IMP
IEP		 mRNA,protein:decreased expression:nasal mucosa RGD PMID:31425778 PMID:31425778 PMID:31425778 RGD:127345100, RGD:127345100, RGD:127345100 NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733 		JBrowse link
G Muc1em1Cgen mucin 1, cell surface associated; TALEN induced mutant 1, Cgen severity IMP RGD PMID:31425778 RGD:127345100
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming IEP mRNA, protein:increased expression:nasal cavity epithelium RGD PMID:22972875 RGD:7364746 NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO mRNA:increased expression:nasal mucosa (human) RGD PMID:23858718 RGD:8547523 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Ocln occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:33441633 NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150 		JBrowse link
G Pon1 paraoxonase 1 severity ISO protein:decreased activity:plasma (human) RGD PMID:23406590 RGD:8547583 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 IEP protein:increased expression:nasal cavity epithelium RGD PMID:24012634 RGD:7775060 NCBI chr 1:228,409,605...229,638,794
Ensembl chr 1:228,408,947...229,639,080 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16979129 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G RT1-M3-1 RT1 class Ib, locus M3, gene 1 ISO RGD PMID:20487636 RGD:5144132 NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117 		JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO mRNA:decreased expression:nasal mucosa, lung RGD PMID:17882576 RGD:5144135 NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610 		JBrowse link
G Scgb3a2 secretoglobin, family 3A, member 2 susceptibility ISO DNA:SNP: :rs7726552 (human) RGD PMID:21410962 RGD:5144225 NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762 		JBrowse link
G Serpine1 serpin family E member 1 ISO mRNA:increased expression:nasal mucosa (mouse) RGD PMID:21339035 RGD:8547809 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Tacr1 tachykinin receptor 1 IEP mRNA:increased expression:nasal mucosa RGD PMID:12768696 RGD:5147835 NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment IEP RGD PMID:31368266 RGD:14995445 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tlr2 toll-like receptor 2 severity ISO DNA:polymorphism:cds:p.R753Q(human)
protein:increased expression:neutrophil:
mRNA:decreased expression:nasal mucosa:		 RGD PMID:22402138 PMID:22555057 PMID:18381801 PMID:18219831 RGD:7800732, RGD:8552993, RGD:8552972, RGD:7800742 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 severity
treatment
susceptibility
no_association		 ISO DNA:polymorphism:cds:p.D299G(human)
protein:increased expression:nasal lavage,leukocyte, bone marrow:
protein:decreased expression:nasal mucosa:
DNA:SNP: :rs1927911(human)
DNA:polymorphism: :4216G>C(human)		 RGD PMID:22402138 PMID:22555057 PMID:22577387 PMID:17069098 PMID:23639307 More... RGD:7800732, RGD:8552993, RGD:7800740, RGD:7800738, RGD:7800736, RGD:4145354 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tlr9 toll-like receptor 9 ISO protein:decreased expression:nasal mucosa: RGD PMID:22577387 RGD:7800740 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796 		JBrowse link
Allergic Rhinoconjunctivitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 treatment ISO associated with Eosinophilic Esophagitis; DNA:polymorphisms:: RGD PMID:26416193 RGD:11352743 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596 		JBrowse link
G Il3 interleukin 3 susceptibility ISO DNA:SNP: :rs40401(human) RGD PMID:23953855 RGD:13506915 NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066 		JBrowse link
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matr3 matrin 3 ISO
ISS		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2
OMIM:606070
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 More... NCBI chr18:27,154,098...27,193,212
Ensembl chr18:27,163,714...27,193,166 		JBrowse link
Arhinia, Choanal Atresia, and Microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia		 CTD
ClinVar
OMIM		 PMID:672092 PMID:5032329 PMID:6802865 PMID:8446727 PMID:8723126 More... NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
Asrar Facharzt Haque Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome ClinVar PMID:19175903 PMID:19336477 PMID:19889517 PMID:20595384 PMID:21888995 More... NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388 		JBrowse link
Asthma and Nasal Polyps term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Da RT1 class II, locus Da susceptibility ISO DNA:SNPs,haplotype:introns: RGD PMID:22391069 RGD:13506908 NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455 		JBrowse link
G Tbx21 T-box transcription factor 21 ISO ClinVar Annotator: match by term: Asthma and nasal polyps ClinVar PMID:15806396 NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831 		JBrowse link
asthma, nasal polyps, and aspirin intolerance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox15 arachidonate 15-lipoxygenase ISO ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance ClinVar PMID:17959182 PMID:21558275 PMID:25741868 PMID:30643255 NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874 		JBrowse link
G Ltc4s leukotriene C4 synthase ISO ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance ClinVar PMID:25741868 NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651 		JBrowse link
G Ptger2 prostaglandin E receptor 2 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr15:18,215,013...18,228,714
Ensembl chr15:18,217,285...18,228,714 		JBrowse link
G Tbx21 T-box transcription factor 21 susceptibility ISO ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:25741868 NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613 		JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 More... NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258 		JBrowse link
G Sult1c2a sulfotransferase family 1C member 2A ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734 		JBrowse link
G Sult1c3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030 		JBrowse link
Bifid Nose term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem1 Fras1 related extracellular matrix 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23221805 NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543 		JBrowse link
BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: Blistering, acantholytic, of oral and laryngeal mucosa OMIM
ClinVar		 PMID:25741868 PMID:30528827 NCBI chr18:11,799,355...11,830,988
Ensembl chr18:11,798,900...11,830,818 		JBrowse link
BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome OMIM
ClinVar		 PMID:12002153 PMID:24728327 PMID:25590979 PMID:25741868 PMID:28492532 More... NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
Bronchiectasis and Nasal Polyposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfdc2 WAP four-disulfide core domain 2 ISO ClinVar Annotator: match by term: BRONCHIECTASIS AND NASAL POLYPOSIS OMIM
ClinVar		 PMID:38626355 NCBI chr 3:153,286,946...153,314,832
Ensembl chr 3:153,286,131...153,292,807 		JBrowse link
Bronchomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Bronchomalacia ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
Burn-McKeown syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484 		JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577 		JBrowse link
G Hsbp1l1 heat shock factor binding protein 1-like 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045 		JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723 		JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404 		JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028 		JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,497,992...73,565,048
Ensembl chr18:73,498,021...73,565,029 		JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,639,264...73,648,914
Ensembl chr18:73,639,260...73,648,915 		JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789 		JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676 		JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutations,deletions:promoter, cds:
DNA:deletions:promoter:		 OMIM
ClinVar
CTD
RGD		 PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... RGD:11531484, RGD:155882456 NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893 		JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737 		JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269 		JBrowse link
Charcot-Marie-Tooth Disease Type 4A, Axonal Form term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive ClinVar PMID:25326637 PMID:28492532 NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form ClinVar PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954 NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive OMIM
ClinVar		 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More... NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22781092 PMID:27686364 NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154 		JBrowse link
CHITAYAT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Chitayat syndrome OMIM
ClinVar		 PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 More... NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388 		JBrowse link
choanal atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Choanal atresia ClinVar PMID:25741868 PMID:31395954 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
Choanal Atresia and Lymphedema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO ClinVar Annotator: match by term: Choanal atresia and lymphedema OMIM
ClinVar		 PMID:20826270 PMID:25741868 NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088 		JBrowse link
chronic rhinitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn1 endothelin 1 ISO protein:increased expression:inferior turbinate, nasal gland, inflammatory cell (human) RGD PMID:8845175 RGD:8661738 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
Chronic Rhinosinusitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd8a CD8 subunit alpha ameliorates ISO protein:decreased expression:blood, T cell (human) RGD PMID:24639246 RGD:124715444 NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:uncinate process, nasal mucosa (human) RGD PMID:23613503 RGD:8696039 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:intron:IVS2+914_1000dup I/II alleles (human) RGD PMID:16549749 RGD:8549791 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:decreased activity:serum: RGD PMID:23144819 RGD:8693716 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Prg2 proteoglycan 2, pro eosinophil major basic protein disease_progression ISO associated with Nasal Polyps; RGD PMID:24450586 RGD:13506943 NCBI chr 3:70,062,535...70,066,102
Ensembl chr 3:70,062,535...70,066,101 		JBrowse link
common cold term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox5 arachidonate 5-lipoxygenase ISO protein:increased expression:bronchus RGD PMID:11865407 RGD:4890421 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743 		JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO protein:increased expression:bronchus RGD PMID:11865407 RGD:4890421 NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:20696083 RGD:4140458 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:respiratory epithelial cell RGD PMID:20395558 RGD:4145446 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:15764644 RGD:5135489 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:respiratory epithelial cell RGD PMID:20395558 RGD:4145446 NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511 		JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO associated with Asthma RGD PMID:12751040 RGD:5135264 NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093 		JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO RGD PMID:19864593 RGD:5131210 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425 		JBrowse link
G Defb4 defensin beta 4 ISO mRNA, protein:increased expression:nasal cavity epithelium, nasal mucus RGD PMID:15034083 RGD:4892264 NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665 		JBrowse link
G Defb5 defensin beta 5 ISO mRNA, protein:increased expression:nasal cavity epithelium, nasal mucus RGD PMID:15034083 RGD:4892264 NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467 		JBrowse link
G Ifna2 interferon alpha 2 treatment ISO RGD PMID:6381610 RGD:40886344 NCBI chr 5:103,258,617...103,259,195 JBrowse link
G Il10 interleukin 10 ISO RGD PMID:20696083 RGD:4140458 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:nasal mucus RGD PMID:10358201 RGD:4143183 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:nasal mucus RGD PMID:7734976 RGD:7401200 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:nasal mucus RGD PMID:18279051 PMID:10358201 RGD:4143207, RGD:4143183 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il33 interleukin 33 ISO protein:increased expression:nasal mucus RGD PMID:28471975 RGD:38596342 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373 		JBrowse link
G Il4 interleukin 4 ISO associated with Asthma;mRNA, protein:increased expression:alveolar macrophage, respiratory system fluid/secretion RGD PMID:20644177 RGD:4140459 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Prdx5 peroxiredoxin 5 ISO associated with asthma;protein:increased expression:sputum (human) RGD PMID:18219526 RGD:41404684 NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268 		JBrowse link
G Tslp thymic stromal lymphopoietin ISO protein:increased expression:nasal mucus (human) RGD PMID:28471975 RGD:38596342 NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548 		JBrowse link
Epistaxis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Epistaxis ClinVar PMID:11484689 PMID:15687131 PMID:16540754 PMID:17786384 PMID:18159113 More... NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591 		JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Spontaneous, recurrent epistaxis ClinVar
RGD		 PMID:15879500 PMID:16542389 PMID:28492532 PMID:30251589 PMID:10562296 RGD:11041563 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion:cds (human) RGD PMID:18066575 RGD:7794809 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
esophageal atresia/tracheoesophageal fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:8673090 PMID:8988179 PMID:9150172 PMID:9536098 PMID:9667259 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Gli2 GLI family zinc finger 2 IEP RGD PMID:12947339 RGD:12801415 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Nog noggin ISO
ISS		 OMIM:189960 MouseDO
RGD		 PMID:17260385 RGD:12801454 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:17200668 PMID:23824750 PMID:25741868 PMID:26283626 PMID:26315354 More... NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990 		JBrowse link
G Sclt1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:25741868 PMID:28492532 PMID:36135330 PMID:36474027 NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065 		JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:25003913 RGD:12801416 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
ethmoid sinusitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl7 C-C motif chemokine ligand 7 ISO protein:increased expression:ethmoid sinus RGD PMID:9800627 RGD:6483785 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303 		JBrowse link
Feingold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brunner Winter syndrome | ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: Microcephaly-oculo-digito-esophageal-duodenal syndrome		 CTD
ClinVar		 PMID:1459449 PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 More... NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590 		JBrowse link
Feingold Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: MYCN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30573562 PMID:37710961 NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590 		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 chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929 		JBrowse link
Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 More... NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353 		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 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237 		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 chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO mRNA:decreased expression:larynx RGD PMID:25633166 RGD:151356763 NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 severity ISO RGD PMID:20164024 RGD:150573814 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383 		JBrowse link
G Traf6 TNF receptor associated factor 6 disease_progression ISO RGD PMID:20164024 RGD:150573814 NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507 		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 7:69,115,216...69,224,843
Ensembl chr 7:69,116,761...69,224,903 		JBrowse link
G Xrcc1 X-ray repair cross complementing 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 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
Laryngeal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500343 NCBI chr 2:226,748,724...226,763,183
Ensembl chr 2:226,741,788...226,763,182 		JBrowse link
G Egfr epidermal growth factor receptor severity ISO protein:increased expression:tumor (human) RGD PMID:8883413 RGD:5131485 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snp:exon:c.354T>C (human) (rs11615) RGD PMID:24582975 RGD:13207310 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO protein:increased expression:larynx RGD PMID:18335753 RGD:4140949 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Mir10a microRNA 10a sexual_dimorphism ISO miRNA:decreased expression:larynx epithelium (human) RGD PMID:25266939 RGD:153344531 NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280 		JBrowse link
G Mir34c microRNA 34c sexual_dimorphism ISO miRNA:increased expression:larynx epithelium (human) RGD PMID:25266939 RGD:153344531 NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:17786346 RGD:5130203 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nat1 N-acetyltransferase 1 susceptibility ISO DNA:polymorphism: : RGD PMID:12037388 RGD:5131864 NCBI chr16:22,218,217...22,238,516
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 severity ISO protein:increased expression:larynx RGD PMID:20429377 RGD:5135434 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16299231 RGD:1581365 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
Laryngeal Papillomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:19736197 RGD:5135499 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Serpina3n serpin family A member 3N ISO protein:decreased expression:serum RGD PMID:16273852 RGD:5147435 NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO RGD PMID:10618282 RGD:5147846 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901 		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 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Cat catalase ISO protein:increased activity:larynx RGD PMID:8138195 RGD:152995273 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cdc73 cell division cycle 73 disease_progression ISO protein:decreased expression:larynx (human) RGD PMID:27334641 RGD:150539447 NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:15646812 RGD:8662837 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 exacerbates ISO mRNA:increased expression:larynx (human) RGD PMID:33315534 RGD:153323310 NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541 		JBrowse link
G Egfr epidermal growth factor receptor disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G Foxl2 forkhead box L2 exacerbates ISO mRNA:increased expression:larynx (human) RGD PMID:32517588 RGD:151667913 NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427 		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:28641905 PMID:24074040 PMID:27188866 RGD:152995454, RGD:152995493, RGD:152995455 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		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 chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993 		JBrowse link
G Mir10a microRNA 10a severity ISO miRNA:decreased expression:blood serum (human) RGD PMID:35117730 RGD:153344530 NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280 		JBrowse link
G Mir136 microRNA 136 ISO RNA:decreased expression:larynx (human) RGD PMID:32014687 RGD:153344610 NCBI chr 6:128,549,096...128,549,177
Ensembl chr 6:128,549,096...128,549,177 		JBrowse link
G Mir21 microRNA 21 exacerbates ISO miRNA:increased expression:blood serum (human) RGD PMID:35117730 RGD:153344530 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Mir31 microRNA 31 disease_progression ISO RNA:decreased expression:mucosa of larynx (human) RGD PMID:29737563 RGD:152998933 NCBI chr 5:103,599,038...103,599,143 JBrowse link
G Mlh1 mutL homolog 1 disease_progression ISO mRNA:decreased expression:larynx RGD PMID:23787767 RGD:126848783 NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:17786346 RGD:5130203 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Msh2 mutS homolog 2 disease_progression ISO mRNA:decreased expression:larynx RGD PMID:23787767 RGD:126848783 NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938 		JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:19922706 PMID:16155914 RGD:5131602, RGD:5131856 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Plcg1 phospholipase C, gamma 1 ameliorates ISO mRNA:increased expression:larynx (human) RGD PMID:33466212 RGD:151665160 NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330 		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 chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Xdh xanthine dehydrogenase ISO protein:increased activity:larynx RGD PMID:8138195 RGD:152995273 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma ClinVar NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
laryngomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Congenital laryngomalacia ClinVar PMID:25741868 NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265 		JBrowse link
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 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168 		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 chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease susceptibility ISO DNA:missense mutation:CDS:p.D1104H (human) RGD PMID:19444904 RGD:155260337 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472 		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 chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Gpx1 glutathione peroxidase 1 susceptibility ISO DNA:missense mutation:CDS: (rs1050450) (human) RGD PMID:23516596 RGD:152998903 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion: : RGD PMID:19252926 RGD:4140943 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO RGD PMID:10067818 RGD:5135043 NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO RGD PMID:10067818 RGD:5135043 NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553 		JBrowse link
G Map2k7 mitogen activated protein kinase kinase 7 ameliorates ISO mRNA:increased expression:larynx (human) RGD PMID:32791689 RGD:155256869 NCBI chr12:2,591,312...2,600,534
Ensembl chr12:2,591,219...2,604,222 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 onset ISO DNA:insertion:Cds: 3020_3021insC (human) RGD PMID:20223031 RGD:5131515 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO RGD PMID:20967863 RGD:126925200 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
lepromatous leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 severity ISO protein:decreased expression:serum RGD PMID:6342123 RGD:7411735 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cd163 CD163 molecule exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:22851198 PMID:28355218 RGD:39939078, RGD:127345133 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Cfb complement factor B severity ISO RGD PMID:6342123 RGD:7411735 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Il27 interleukin 27 ameliorates ISO mRNA:decreased expression:skin of body (human) RGD PMID:26030183 RGD:126790539 NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:SNP:cds:161G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms: :HLA-DQA1*03, HLA-DQA1*05 (human) RGD PMID:19698125 RGD:5147788 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Batf3 basic leucine zipper ATF-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr13:102,689,657...102,701,241
Ensembl chr13:102,689,657...102,701,139 		JBrowse link
G Ccdc122 coiled-coil domain containing 122 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr15:52,407,717...52,470,163
Ensembl chr15:52,407,717...52,470,163 		JBrowse link
G Ccdc88b coiled-coil domain containing 88B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr 1:204,036,913...204,052,878
Ensembl chr 1:204,036,918...204,052,970 		JBrowse link
G Cd8a CD8 subunit alpha exacerbates ISO mRNA:increased expression:blood (human) RGD PMID:31784594 RGD:124715449 NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040 		JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il17a interleukin 17A severity ISO mRNA:decreased expression:epidermis (human) RGD PMID:22641009 RGD:8698644 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473 		JBrowse link
G Il23r interleukin 23 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
G Lacc1 laccase domain containing 1 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr15:52,390,267...52,407,630
Ensembl chr15:52,395,183...52,407,545 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Lta lymphotoxin alpha susceptibility ISO ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:15052269 PMID:17353895 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Mrc1 mannose receptor, C type 1 ISO ClinVar Annotator: match by term: Susceptibility to leprosy and multibacillary leprosy ClinVar PMID:20035344 NCBI chr17:77,249,187...77,330,857
Ensembl chr17:77,249,187...77,330,857 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO DNA:polymorphisms: :multiple (human)
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1		 ClinVar
RGD		 PMID:25741868 PMID:20350193 RGD:5508743 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Parl presenilin associated, rhomboid-like ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: LPRS2 ClinVar PMID:10072423 PMID:11558785 PMID:11889248 PMID:12114481 PMID:12730996 More... NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934 		JBrowse link
G Ripk2 receptor-interacting serine-threonine kinase 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 5:29,630,806...29,662,804
Ensembl chr 5:29,631,570...29,662,657 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human) RGD PMID:20003324 PMID:19698125 RGD:5147585, RGD:5147788 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 susceptibility ISO DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms, haplotype (human)		 CTD
RGD		 PMID:16597321 PMID:15755200 PMID:10608779 RGD:5684957, RGD:5684972 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Tlr1 toll-like receptor 1 susceptibility ISO DNA:snp:cds:p.I602S (human)
ClinVar Annotator: match by term: LPRS1 | ClinVar Annotator: match by term: Leprosy, susceptibility to, 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 More... RGD:7246917 NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125 		JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO DNA:polymorphisms:microsatellite,597C>T(human)
ClinVar Annotator: match by term: Leprosy, susceptibility to, 3
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:11476982 PMID:12646604 PMID:15726416 PMID:19111445 PMID:25741868 More... RGD:8553055 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr6 toll-like receptor 6 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfsf15 TNF superfamily member 15 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 5:77,134,885...77,156,171
Ensembl chr 5:77,139,878...77,156,228 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25320285 NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
lipoid proteinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Lipid proteinosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:11929856 PMID:12472532 PMID:12603844 PMID:15327549 PMID:16172042 More... RGD:734912 NCBI chr 2:183,287,491...183,292,729
Ensembl chr 2:183,287,322...183,292,671 		JBrowse link
Martinez-Frias Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rfx6 regulatory factor X, 6 ISO ClinVar Annotator: match by term: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA ClinVar PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 More... NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147 		JBrowse link
maxillary sinus squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:15040115 RGD:8662355 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
mucocutaneous leishmaniasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:7854095 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Lta lymphotoxin alpha ISO DNA:polymorphism:intron RGD PMID:7595196 RGD:8548799 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:7595196 RGD:8548799 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Multibacillary Leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggt1 gamma-glutamyltransferase 1 ISO protein:increased activity:blood: RGD PMID:1680936 RGD:14747017 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:20353806 RGD:5147577 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:insertion/deletion:3' utr (human) RGD PMID:11791966 RGD:5684970 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
nasal cavity adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO RGD PMID:19903339 RGD:9014708 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
nasal cavity cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox2 SRY-box transcription factor 2 ISO DNA:amplification RGD PMID:23544055 RGD:8661654 NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338 		JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:19950227 RGD:8547762 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
Nasal Obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npy neuropeptide Y ISO CTD Direct Evidence: therapeutic CTD PMID:9288221 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
Nasal Polyps term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO associated with Chronic Rhinosinusitis;protein:increased expression:nasal sinus (human) RGD PMID:22223515 RGD:8657074 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Adrb2 adrenoceptor beta 2 susceptibility ISO DNA:polymorphism:p.R16G(human) RGD PMID:17621827 RGD:8548469 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO mRNA:decreased expression:nasal cavity epithelium RGD PMID:20554417 RGD:5509597 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542 		JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO mRNA:increased expression:nasal cavity epithelium
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:30643255 PMID:20554417 RGD:5509597 NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874 		JBrowse link
G Ang angiogenin ISO RGD PMID:21711968 RGD:6892710 NCBI chr15:24,312,711...24,323,361 JBrowse link
G Anxa1 annexin A1 ISO RGD PMID:20549082 RGD:7421567 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO associated with Sinusitis;protein:decreased expression:respiratory system mucosa RGD PMID:19958603 RGD:4891064 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Cat catalase ISO protein:increased activity:nasal concha: RGD PMID:16287205 RGD:9479048 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ccl1 C-C motif chemokine ligand 1 ISO associated with Sinusitis RGD PMID:20598643 RGD:4891418 NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO mRNA:increased expression:nasal cavity epithelium RGD PMID:10415058 RGD:4145448 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:sinus: RGD PMID:22287435 RGD:7483612 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO associated with Allergic Rhinitis
associated with Rhinosinusitis		 RGD PMID:19027509 PMID:22287435 RGD:7483586, RGD:7483612 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629 		JBrowse link
G Ccl24 C-C motif chemokine ligand 24 ISO mRNA:increased expression:nasal cavity epithelium RGD PMID:10415058 RGD:4145448 NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893 		JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium RGD PMID:21303604 RGD:5130929 NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:22287435 RGD:7483612 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO associated with Rhinosinusitis RGD PMID:22287435 RGD:7483612 NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603 		JBrowse link
G Chia chitinase, acidic ISO associated with Sinusitis; mRNA:increased expression:mucosa of ethmoidal sinus (human) RGD PMID:16871939 RGD:5024927 NCBI chr 2:193,614,374...193,656,532
Ensembl chr 2:193,614,114...193,656,533 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO associated with Sinusitis;mRNA:increased expression:respiratory system mucosa RGD PMID:19178793 RGD:5134986 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215 		JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO associated with Sinusitis;mRNA:increased expression:respiratory system mucosa RGD PMID:19178793 RGD:5134986 NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511 		JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO protein:increased expression:nasal cavity epithelium
associated with Asthma
associated with Rhinitis;mRNA:increased expression:nasal cavity epithelium		 RGD PMID:16739673 PMID:11591188 PMID:16689996 RGD:4889117, RGD:4848936, RGD:4783198 NCBI chr  X:71,661,421...71,690,012
Ensembl chr  X:71,663,821...71,690,121 		JBrowse link
G Egr1 early growth response 1 ISO mRNA:increased expression:nasal polyp (human) RGD PMID:19158123 RGD:4890001 NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:decreased expression:nasal polyp (human) RGD PMID:15283292 RGD:8662435 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fgf1 fibroblast growth factor 1 ISO RGD PMID:16720444 RGD:8655569 NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:16720444 RGD:8655569 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO associated with GSTT1 null genotype:DNA:deletion: : RGD PMID:16550944 RGD:4142528 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion: : RGD PMID:19701760 RGD:4142518 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hgf hepatocyte growth factor ISO mRNA,protein:increased expression:nasal cavity mucosa: RGD PMID:16982975 RGD:8548613 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:nasal cavity epithelium RGD PMID:11593541 RGD:8547687 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Ifng interferon gamma ISO protein:increased expression:nasal mucosa, tissue: RGD PMID:9149164 RGD:8158035 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA:increased expression:nasal cavity mucosa: RGD PMID:18202785 RGD:8548875 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:22462754 RGD:7364835 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il13 interleukin 13 ISO associated with Rhinosinusitis;protein:increased expression:serum RGD PMID:23969075 RGD:8549540 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il16 interleukin 16 ISO associated with Sinusitis RGD PMID:17431659 RGD:5024933 NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:nose, serum
associated with rhinitis; protein:increased expression:nasal mucosa		 RGD PMID:20506642 PMID:21091665 RGD:4889137, RGD:4889132 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il1a interleukin 1 alpha susceptibility ISO associated with asthma;DNA:polymorphism:exon:
DNA:SNPs:exon:		 RGD PMID:12752325 PMID:17638785 RGD:4142804, RGD:4142855 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il5ra interleukin 5 receptor subunit alpha ISO protein:increased expression:nasal mucus, serum RGD PMID:12752323 RGD:5128621 NCBI chr 4:139,630,652...139,664,593
Ensembl chr 4:139,632,066...139,668,544 		JBrowse link
G Il9 interleukin 9 ISO associated with Bronchial Hyperreactivity RGD PMID:15007348 RGD:5128694 NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895 		JBrowse link
G Itgal integrin subunit alpha L ISO protein:increased expression:nasal cavity epithelium RGD PMID:11593541 RGD:8547687 NCBI chr 1:181,918,183...181,955,735
Ensembl chr 1:181,918,183...181,955,732 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO mRNA:decreased expression:nasal cavity epithelium RGD PMID:19158123 RGD:4890001 NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656 		JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:inferior nasal concha: RGD PMID:12515274 RGD:8551781 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Kitlg KIT ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:15813808 NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214 		JBrowse link
G Lepr leptin receptor ISO mRNA:increased expression:nose RGD PMID:20422702 RGD:5129163 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO associated with Sinusitis; protein:increased secretion:serum (human) RGD PMID:19593977 RGD:4889484 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO mRNA,protein:increased expression:nasal cavity mucosa: RGD PMID:16982975 RGD:8548613 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa RGD PMID:23064462 RGD:8549735 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa RGD PMID:23064462 PMID:21305560 RGD:8549735, RGD:8656001 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 susceptibility
disease_progression		 ISO associated with Asthma, Aspirin-Induced; DNA:polymorphism:promoter: -1562C>T (human)
associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa 		RGD PMID:19958602 PMID:23987197 PMID:23064462 RGD:5130861, RGD:8657056, RGD:8549735 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO RGD PMID:15715404 RGD:7364740 NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO mRNA:increased expression:nasal mucosa
DNA:repeats:promoter		 RGD PMID:20554417 PMID:18714530 RGD:5509597, RGD:4891508 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:nasal mucosa (human) RGD PMID:15942806 RGD:7771559 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO associated with Sinusitis RGD PMID:21711960 RGD:6483796 NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:23238704 RGD:8547666 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B ISO associated with Chronic Rhinosinusitis;mRNA:increased expression:mucosa of paranasal sinus (human) RGD PMID:18391768 RGD:9999402 NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO associated with Cystic Fibrosis; protein:increased expression:nasal mucosa: RGD PMID:16517580 RGD:5143924 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO associated with Cystic Fibrosis; protein:increased expression:nasal mucosa: RGD PMID:16517580 RGD:5143924 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO associated with intrinsic asthma;DNA:polymorphism:cds:HLA-DQA1*0201 (human)
DNA:polymorphism,haplotype: :HLA-DQA1*0201		 RGD PMID:10718431 PMID:16890076 RGD:5147813, RGD:8547658 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO associated with intrinsic asthma;DNA:polymorphism, haplotype:cds:HLA-DQB1*0202 (human)
DNA:haplotype: : HLA-DQB1*0201;		 RGD PMID:10718431 PMID:16890076 RGD:5147813, RGD:8547658 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility ISO DNA:polymorphisms:cds:HLA-B*07, HLA-B*57 (human, Turkish) RGD PMID:18922348 RGD:7364876 NCBI chr20:3,314,830...3,318,106 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO associated with intrinsic asthma;DNA:polymorphisms:cds:HLA-DR7 (human) RGD PMID:10718431 RGD:5147813 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Sod1 superoxide dismutase 1 ISO mRNA, protein:increased expression:middle nasal turbinate, lamella (human)
associated with Rhinosinusitis;protein:decreased expression:nasal mucosa:		 RGD PMID:16540901 PMID:23921602 RGD:1581230, RGD:8547534 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 ISO associated with Rhinosinusitis;mRNA,protein:decreased expression:nasal mucosa: RGD PMID:23921602 RGD:8547534 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sod3 superoxide dismutase 3 ISO mRNA, protein:increased expression:middle nasal turbinate, lamella (human) RGD PMID:16540901 RGD:1581230 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:22959364 RGD:8694314 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO associated with Rhinitis
mRNA:decreased expression:nasal cavity epithelium		 RGD PMID:18423831 PMID:23406597 PMID:12761968 RGD:4145277, RGD:7394852, RGD:7394830 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tlr2 toll-like receptor 2 ISO associated with Cystic Fibrosis;mRNA:increased expression:inferior nasal concha: RGD PMID:15836755 RGD:8552992 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 ISO associated with Rhinosinusitis;mRNA,protein:increased expression: RGD PMID:23157229 RGD:7800741 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tlr7 toll-like receptor 7 ISO associated with Rhinosinusitis;mRNA,protein:increased expression: RGD PMID:23157229 RGD:7800741 NCBI chr  X:27,027,380...27,054,309
Ensembl chr  X:27,027,425...27,054,754 		JBrowse link
G Tnc tenascin C ISO protein:increased expression:nasal cavity epithelium RGD PMID:12916355 RGD:4889591 NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNPs:promoter: RGD PMID:17638785 RGD:4142855 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO mRNA:decreased expression:nasal polyp (human) RGD PMID:19095579 RGD:5131442 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO mRNA:decreased expression:nasal polyp (human) RGD PMID:19095579 RGD:5131442 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:Turbinates: RGD PMID:12761968 RGD:7394830 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
nasal type extranodal NK/T-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A severity ISO Nasal Type;protein:increased expression:nasal cavity (human) RGD PMID:18756548 RGD:8657087 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Cd274 CD274 molecule disease_progression ISO associated with Epstein-Barr Virus Infections RGD PMID:27595782 RGD:41412182 NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450 		JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:15924153 NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034 		JBrowse link
G Fas Fas cell surface death receptor ISO DNA:insertion, deletions:cds:multiple (human) RGD PMID:12466128 RGD:8662407 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Gpx3 glutathione peroxidase 3 treatment ISO associated with ethmoid sinus cancer and Neoplasm Metastasis RGD PMID:29496492 RGD:151708712 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22705984 PMID:23689514 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Prdm1 PR/SET domain 1 disease_progression ISO RGD PMID:24438193 RGD:150530467 NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased expression:nasal cavity (human) RGD PMID:17225522 RGD:153298933 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29200404 NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668 		JBrowse link
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 1:200,089,002...200,098,524
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 5:134,125,022...134,154,155
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 chr19:30,233,540...30,303,727
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 chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms | ClinVar Annotator: match by term: Nasopharyngeal neoplasm ClinVar PMID:17525745 PMID:18552176 PMID:22238366 PMID:23002168 PMID:23908597 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms | ClinVar Annotator: match by term: Nasopharyngeal neoplasm ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:20512145 NCBI chr 2:112,909,353...113,464,583
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 chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Rassf2 Ras association domain family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17013896 NCBI chr 3:119,244,288...119,280,462
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 chr15:35,092,206...35,158,472
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 chr10:54,300,070...54,311,525
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 7:56,548,060...56,618,364
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 chr17:1,542,705...1,607,730
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 5:145,908,173...145,981,552
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:28820634 PMID:19142888 RGD:126779560, RGD:150340692, RGD:126790562 NCBI chr 8:53,828,741...53,932,773
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 8:96,426,704...96,524,152
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 chr13:22,689,783...22,853,920
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 chr10:86,417,441...86,477,762
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:97,722,796...97,762,315
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 chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414 		JBrowse link
G Ccnd2 cyclin D2 disease_progression ISO RGD PMID:20473882 RGD:151665334 NCBI chr 4:159,966,883...159,989,261
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 4:157,085,080...157,118,470
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 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146 		JBrowse link
G Clptm1l CLPTM1-like susceptibility ISO DNA:SNP: :rs401681(human)
DNA:SNP:intron:rs31489(human)
DNA:SNP:intron:rs31489(human)
protein:increased expression:nasopharynx		 RGD PMID:26621837 PMID:31270100 PMID:26545403 PMID:26621837 RGD:11564613, RGD:150537099, RGD:11556976, RGD:11564613 NCBI chr 1:29,667,545...29,683,530
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 chr13:106,678,579...106,716,595
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 chr18:54,546,673...54,590,418
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 chr13:40,077,976...40,081,883
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 1:195,840,330...195,850,728
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 3:18,915,290...19,086,282
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 chr13:82,193,623...82,318,229
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 chr16:80,783,389...80,827,420
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 7:994,549...1,015,876
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 4:76,624,399...76,687,362
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 chr17:9,461,541...9,476,268
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 chr12:7,296,899...7,468,626
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 6:24,297,898...24,319,219
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 2:241,159,481...241,186,591
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 8:109,026,905...109,028,031
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 chr10:5,629,683...6,053,262
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 2:195,649,845...195,655,402
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 1:226,995,334...227,054,381
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 4:103,630,907...103,675,073
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 chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO RGD PMID:31646828 RGD:151356762 NCBI chr 4:9,620,638...9,834,787
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 chr10:50,343,227...50,447,956
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 chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589 		JBrowse link
G Mir132 microRNA 132 treatment ISO RGD PMID:29442000 RGD:151665745 NCBI chr10:60,023,696...60,023,796
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 chr10:81,832,936...81,833,020
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 6:128,752,947...128,753,030
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:3,428,904...3,429,006
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 5:103,599,038...103,599,143 JBrowse link
G Mir423 microRNA 423 disease_progression ISO mRNA:decreased expression:nasopharynx (human) RGD PMID:30326930 RGD:153344557 NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226 		JBrowse link
G Mst1r macrophage stimulating 1 receptor susceptibility ISO ClinVar Annotator: match by term: Nasopharyngeal carcinoma, susceptibility to, 3 OMIM
ClinVar		 PMID:25741868 PMID:26951679 PMID:28492532 NCBI chr 8:108,596,100...108,611,441
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 1:196,916,861...196,948,830
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 chr18:3,379,482...3,425,100
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 chr14:81,279,292...81,282,960
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 chr12:11,037,028...11,057,251
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 4:153,106,062...153,128,598
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 chr18:1,696,838...1,707,400
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 chr13:45,050,986...45,057,231
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 7:28,130,427...28,137,129
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 4:118,812,278...118,819,827
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 5:153,775,287...153,848,677
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 3:146,091,969...146,139,492
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 chr10:85,811,206...85,863,057
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 1:29,637,213...29,659,561
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 2:221,988,645...222,072,813
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 1:13,709,211...13,724,291
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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression
severity		 ISO protein:increased expression:nasopharynx (human)
protein:increased expression:mucosa of nasopharynx (human)		 RGD PMID:16480593 PMID:23631129 PMID:30123088 RGD:126925191, RGD:153305949, RGD:149735327 NCBI chr 9:14,955,300...14,970,641
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 chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 treatment
susceptibility
sexual_dimorphism		 ISO DNA:SNP:3'utr: (rs25489) (human)
DNA:missense mutation:cds: p.R194W (human)
DNA:missense mutation:exon 10: p.R399Q G>A, (rs25487) (human)
associated with Tobacco Use Disorder; DNA:missense mutation:cds: p.R399Q (human)		 RGD PMID:29108254 PMID:17630853 PMID:24175791 PMID:27356695 PMID:16796765 RGD:150530619, RGD:150573708, RGD:150573698, RGD:150573697, RGD:150573694 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
Nose Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmbt1 deleted in malignant brain tumors 1 IEP mRNA, Protein:increased expression RGD PMID:12419858 RGD:1599782 NCBI chr 1:185,617,469...185,696,476
Ensembl chr 1:185,617,294...185,696,478 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16178123 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
paranasal sinus benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa1 annexin A1 ISO RGD PMID:20970165 RGD:7421559 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343 		JBrowse link
G Anxa2 annexin A2 disease_progression ISO RGD PMID:20970165 RGD:7421559 NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658 		JBrowse link
G Tp53 tumor protein p53 treatment ISO DNA:mutations:cds: RGD PMID:22575263 PMID:23369851 RGD:8547763, RGD:8547764 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
Paucibacillary Leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggt1 gamma-glutamyltransferase 1 ISO protein:increased activity:blood: RGD PMID:1680936 RGD:14747017 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442 		JBrowse link
Perennial Allergic Rhinitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:serum RGD PMID:19725899 RGD:5686851 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19389874 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO protein:increased expression:nasal turbinate RGD PMID:19364335 RGD:5147461 NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986 		JBrowse link
G Cat catalase ISO protein:decreased expression:plasma RGD PMID:20493834 RGD:5130771 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:nasal turbinate, mucosa (human) RGD PMID:9865755 RGD:8548839 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:Nasal Mucosa RGD PMID:17982926 RGD:4145109 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO mRNA:increased expression:nasal mucosa (human) RGD PMID:17982926 RGD:4145109 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20226305 RGD:5132269 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd86 CD86 molecule ISO protein:increased expression:nasal mucosa, dendritic cell (human) RGD PMID:17088138 RGD:4892343 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Chia chitinase, acidic ISO mRNA, protein:increased expression:turbinate, mucosa (human) RGD PMID:20422678 RGD:5037226 NCBI chr 2:193,614,374...193,656,532
Ensembl chr 2:193,614,114...193,656,533 		JBrowse link
G Egr1 early growth response 1 ISO DNA:snp:5' utr:g.-4071A>G rs7729723 (human) RGD PMID:19833116 RGD:5131984 NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G F2rl1 F2R like trypsin receptor 1 ISO RGD PMID:17727088 RGD:4892590 NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:exon:p.I105V (rs1695) (human) RGD PMID:17181111 RGD:4142523 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA, protein:increased expression: nasal mucosa RGD PMID:16540907 RGD:4145406 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:lung, endothelium (mouse)
protein:increased secretion:nasopharynx (human)		 RGD PMID:19968652 PMID:19047814 RGD:4145464, RGD:4145520 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO DNA: SNP: Leu467Pro RGD PMID:12851715 RGD:6480431 NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785 		JBrowse link
G Il13 interleukin 13 ISO mRNA, protein:increased expression:nasal mucosa RGD PMID:8520776 RGD:4782826 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il17a interleukin 17A severity ISO protein:increased expression:serum RGD PMID:19226302 RGD:4889151 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNP:promoter:c. -607A>C (rs1946518) (human) RGD PMID:16406079 RGD:4889924 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1a interleukin 1 alpha ISO DNA:polymorphism:exon:c.4845G>T (human) RGD PMID:14533660 RGD:4142859 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO RGD PMID:18637763 RGD:5037238 NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937 		JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:serum: RGD PMID:17608155 RGD:8662959 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il4 interleukin 4 treatment ISO protein:increased expression:serum RGD PMID:21171297 PMID:9237816 PMID:15329007 RGD:5128559, RGD:7829817, RGD:7829804 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il5 interleukin 5 ISO protein: increased levels: sputum RGD PMID:22186238 RGD:5687140 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:nasal mucosa: RGD PMID:19786210 RGD:5130872 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:nasal mucosa: RGD PMID:19786210 RGD:5130872 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:nasal mucosa RGD PMID:14587983 RGD:4892078 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO DNA:snp:promoter:g.-786T>C (human) RGD PMID:18086269 RGD:4892054 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO protein:altered expression:nasal mucosa RGD PMID:20185258 RGD:4892593 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO mRNA, protein:increased expression:nasal mucosa (human) RGD PMID:17116814 RGD:8552811 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO protein:increased expression:respiratory system epithelium RGD PMID:19364335 RGD:5147461 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586 		JBrowse link
G Tbxa2r thromboxane A2 receptor treatment ISO RGD PMID:15247523 RGD:11059532 NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176 		JBrowse link
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Peripheral neuropathy, myopathy, hoarseness, and hearing loss OMIM
ClinVar		 PMID:15015131 PMID:21480433 PMID:23806086 PMID:24033266 PMID:24088041 More... NCBI chr 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836 		JBrowse link
rhinitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam33 ADAM metallopeptidase domain 33 susceptibility ISO DNA:SNPs: :multiple (human) RGD PMID:18778489 PMID:15298558 RGD:4145378, RGD:4145383 NCBI chr 3:118,262,395...118,283,456
Ensembl chr 3:118,271,029...118,283,461 		JBrowse link
G Ang angiogenin ISO protein:increased expression:sputum RGD PMID:19178538 RGD:6892723 NCBI chr15:24,312,711...24,323,361 JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO RGD PMID:12165532 RGD:5129220 NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747 		JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO RGD PMID:1890650 PMID:11149999 RGD:4891044, RGD:4891033 NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497 		JBrowse link
G Bdnf brain-derived neurotrophic factor susceptibility IEP
ISO		 mRNA:increased expression:nasal cavity epithelium
DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human)		 RGD PMID:20464992 PMID:21723144 RGD:4891116, RGD:8655967 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G C3 complement C3 ISO
IEP		 mRNA:increased expression:nasal cavity epithelium RGD PMID:20109314 PMID:17345707 RGD:5129539, RGD:5129524 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C3ar1 complement C3a receptor 1 severity ISO protein:increased expression:nasal cavity RGD PMID:18538384 RGD:5129559 NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701 		JBrowse link
G C5ar1 complement C5a receptor 1 ISO RGD PMID:18538384 RGD:5129559 NCBI chr 1:76,948,622...76,959,826 JBrowse link
G Casp1 caspase 1 ISO protein:increased expression:serum RGD PMID:12396474 PMID:20974310 RGD:5130192, RGD:5130187 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383 		JBrowse link
G Cat catalase treatment ISO protein:increased activity:blood,nasal cavity mucosa: RGD PMID:21541033 RGD:9479054 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ccl1 C-C motif chemokine ligand 1 ISO mRNA:increased expression:nasal cavity epithelium RGD PMID:17982926 RGD:4145109 NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 severity ISO
IEP		 associated with Sinusitis;protein:increased expression:paranasal sinus
protein:increased expression:nasal mucus
mRNA:increased expression:lung, nose		 RGD PMID:17999785 PMID:16120080 PMID:16765544 RGD:4145455, RGD:4145411, RGD:4145462 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926 		JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO protein:increased expression:blood, mononuclear cell RGD PMID:17517104 RGD:4145498 NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO RGD PMID:17947663 RGD:5130909 NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308 		JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO protein:increased expression:blood, mononuclear cell RGD PMID:17517104 RGD:4145498 NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400 		JBrowse link
G Ccl24 C-C motif chemokine ligand 24 ISO mRNA:increased expression:nasal cavity epithelium
DNA:SNPs: :179T>C, 275C>T (human)		 RGD PMID:17982926 PMID:15580493 RGD:4145109, RGD:4891493 NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893 		JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO DNA:polymorphism: :2497T>G (human)
associated with Eosinophilia;protein:increased expression:oronasal secretion (human)		 RGD PMID:15580493 PMID:24989688 RGD:4891493, RGD:11531119 NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO RGD PMID:19786211 RGD:5130914 NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231 		JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO RGD PMID:17982926 RGD:4145109 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 susceptibility ISO Rhinitis, Allergic, Seasonal; DNA:SNP:cds:p.V64I (human) RGD PMID:17135764 RGD:4145111 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO
IEP		 DNA:SNP:exon:51T>C (human)
protein:increased expression:blood, T cell
mRNA:increased expression:nose		 RGD PMID:17135764 PMID:17156343 PMID:20696593 RGD:4145111, RGD:4145645, RGD:4145454 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990 		JBrowse link
G Cd14 CD14 molecule susceptibility
resistance		 ISO DNA:polymorphism:promoter:c. -159c>T (human) RGD PMID:20109306 PMID:16950285 RGD:4144795, RGD:4144810 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cd28 Cd28 molecule ISO RGD PMID:21356099 RGD:5131612 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685 		JBrowse link
G Cd80 Cd80 molecule ISO RGD PMID:21108691 RGD:5132622 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030 		JBrowse link
G Cdc42 cell division cycle 42 ISO mRNA:increased expression:nasal turbinate RGD PMID:19432938 RGD:5688273 NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16083808 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO mRNA, protein:increased expression:nasal cavity epithelium RGD PMID:17597629 RGD:5130940 NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481 		JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 ISO mRNA, protein:increased expression:nasal cavity epithelium RGD PMID:17597629 RGD:5130940 NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO protein:increased expression:T cell RGD PMID:17625281 RGD:4891512 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:plasma RGD PMID:14657873 RGD:4891906 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833 		JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO protein:increased expression:nasal mucus RGD PMID:20659080 RGD:4892030 NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093 		JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO DNA:SNP:3' utr:*1934G>A (human) RGD PMID:20088379 RGD:5143945 NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759 		JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium RGD PMID:17627772 PMID:16689996 PMID:15379985 PMID:18946234 RGD:4781451, RGD:4783198, RGD:4847512, RGD:4888516 NCBI chr  X:71,661,421...71,690,012
Ensembl chr  X:71,663,821...71,690,121 		JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium RGD PMID:16689996 RGD:4783198 NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136 		JBrowse link
G Fcer1a Fc epsilon receptor Ia ISO RGD PMID:20650300 RGD:5128714 NCBI chr13:85,686,099...85,692,394
Ensembl chr13:85,686,092...85,692,351 		JBrowse link
G Fis1 fission, mitochondrial 1 IEP mRNA, protein:increased expression:nasal cavity mucosa (rat) RGD PMID:28146064 RGD:13204839 NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377 		JBrowse link
G Hdc histidine decarboxylase ISO
IEP		 DNA:SNP: :p.E644D (rs2073440) (human) RGD PMID:20608921 PMID:15054596 RGD:5128884, RGD:5143921 NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341 		JBrowse link
G Hnmt histamine N-methyltransferase no_association ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17651147 PMID:17651147 RGD:5128885 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
G Hrh1 histamine receptor H 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12167471 NCBI chr 4:147,564,963...147,649,353
Ensembl chr 4:147,645,995...147,647,455 		JBrowse link
G Il13 interleukin 13 susceptibility
disease_progression		 ISO
IEP		 associated with asthma; DNA:polymorphisms:promoter:c. -1510A>C, -1055C>T (human)
mRNA:increased expression:nose
DNA:polymorphism: :rs1800925 (human)		 RGD PMID:16120094 PMID:20358028 PMID:20696593 PMID:17088137 PMID:20484924 RGD:4206706, RGD:4145767, RGD:4145454, RGD:4159171, RGD:4145534 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO RGD PMID:17088137 RGD:4159171 NCBI chr  X:111,002,590...111,074,053
Ensembl chr  X:111,002,592...111,072,381 		JBrowse link
G Il15 interleukin 15 ISO RGD PMID:16750998 RGD:5000756 NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820 		JBrowse link
G Il16 interleukin 16 ISO protein:increased expression:serum
protein:increased expression:nasal cavity epithelium, serum		 RGD PMID:18254318 PMID:19295235 RGD:5024932, RGD:5024931 NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:nasal mucosa RGD PMID:20506642 PMID:19927541 RGD:4889137, RGD:4889144 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il18 interleukin 18 disease_progression ISO protein:increased expression:nasal lavage fluid, bronchoalveolar lavage fluid
rhinitis allergic, seasonal; protein:increased expression:plasma
protein:increased expression:serum		 RGD PMID:17305282 PMID:15934281 PMID:17323858 RGD:4889917, RGD:4889927, RGD:4889916 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1b interleukin 1 beta susceptibility IEP
ISO		 mRNA:increased expression:nasal cavity epithelium
associated with Hypersensitivity;DNA:polymorphism: :-511C>T (human)
associated with Hypersensitivity;protein:increased expression:nasal mucus 		RGD PMID:20490816 PMID:14533660 PMID:10224452 RGD:4142821, RGD:4142859, RGD:4143227 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 severity ISO associated with Sinusitis;DNA:SNPs: :multiple (human) RGD PMID:19671251 RGD:5144228 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO associated with Hypersensitivity;DNA:repeat:intron (human) RGD PMID:14533660 PMID:15178892 PMID:10224452 RGD:4142859, RGD:4143215, RGD:4143227 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:SNP:promoter:rs2069762(human) RGD PMID:16333313 RGD:8663473 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il21 interleukin 21 ISO RGD PMID:17982108 RGD:5147397 NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996 		JBrowse link
G Il22 interleukin 22 severity ISO mRNA:increased expression:blood, mononuclear cell RGD PMID:21535180 RGD:5147409 NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186 		JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNP,haplotype: :rs7517847(human) RGD PMID:23696856 RGD:8549605 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
G Il27ra interleukin 27 receptor subunit alpha ISO RGD PMID:19354069 RGD:5128480 NCBI chr19:24,109,963...24,121,977
Ensembl chr19:24,109,972...24,121,938 		JBrowse link
G Il4 interleukin 4 ISO
IEP		 mRNA:increased expression:nasal cavity epithelium
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum		 CTD
RGD		 PMID:19672097 PMID:21208219 PMID:18826099 RGD:5128558, RGD:2317285 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il4r interleukin 4 receptor ISO DNA:polymorphism: :c.1432T>C (human) RGD PMID:15564773 RGD:4890394 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Il5 interleukin 5 ISO RGD PMID:11884474 RGD:5128622 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Il9 interleukin 9 ISO RGD PMID:20525149 RGD:5128687 NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895 		JBrowse link
G Lep leptin ISO RGD PMID:19860581 RGD:5128850 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism: : RGD PMID:18831943 RGD:8693717 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mfn1 mitofusin 1 IEP mRNA, protein:increased expression:nasal cavity mucosa (rat) RGD PMID:28146064 RGD:13204839 NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640 		JBrowse link
G Mif macrophage migration inhibitory factor severity ISO protein:increased expression:serum, nasal mucosa RGD PMID:15053202 PMID:15922619 RGD:4891045, RGD:4891056 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504 		JBrowse link
G Ms4a2 membrane spanning 4-domains A2 ISO RGD PMID:15480314 RGD:5131152 NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming IEP
ISO		 mRNA:increased expression:nose RGD PMID:20696593 PMID:15715404 RGD:4145454, RGD:7364740 NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475 		JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:respiratory system fluid/secretion
associated with Sinusitis;protein:increased expression:respiratory system mucosa		 RGD PMID:10224365 PMID:19958603 RGD:4891115, RGD:4891064 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Ngfr nerve growth factor receptor ISO protein:increased expression:blood, eosinophil RGD PMID:18647313 RGD:5144116 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Nod1 nucleotide-binding oligomerization domain containing 1 ISO mRNA:decreased expression:nose RGD PMID:20384614 RGD:5131446 NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility ISO DNA:polymorphisms:cds:2104C>T,2722G>C (human) RGD PMID:12704363 RGD:5131484 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:nasal mucosa RGD PMID:18254476 RGD:4891910 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Npy neuropeptide Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:12746121 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO protein:increased expression:eosinophil RGD PMID:18647313 RGD:5144116 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase IEP mRNA, protein:increased expression:nasal cavity mucosa (rat) RGD PMID:28146064 RGD:13204839 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Plau plasminogen activator, urokinase ISO mRNA:increased expression:nasal cavity epithelium RGD PMID:21339035 RGD:8547809 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Ptgdr2 prostaglandin D2 receptor 2 ISO RGD PMID:19230460 PMID:19608418 RGD:5135021, RGD:5135017 NCBI chr 1:207,585,088...207,590,275
Ensembl chr 1:207,587,917...207,589,213 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:cds:HLA-DQA1*0201, HLA-DQA1*0302 (human) RGD PMID:14990915 RGD:5147798 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0602 (human) RGD PMID:14990915 RGD:5147798 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G Scgb3a2 secretoglobin, family 3A, member 2 ISO protein:increased expression:sputum
mRNA,protein:decreased expression:nasal mucosa		 RGD PMID:17218572 PMID:21385388 RGD:5144232, RGD:5147389 NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762 		JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:19063817 RGD:4144832 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Sftpd surfactant protein D susceptibility ISO associated with Hypersensitivity;DNA:polymorphism: :p.M11T (human) RGD PMID:19493231 RGD:4143494 NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member susceptibility
no_association		 ISO DNA:SNPs: : RGD PMID:17982230 PMID:12018331 RGD:6482262, RGD:6482274 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901 		JBrowse link
G Tbxa2r thromboxane A2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12167471 NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO associated with Sinusitis RGD PMID:18423831 RGD:4145277 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tlr2 toll-like receptor 2 susceptibility
no_association		 ISO DNA:SNPs: :597T>C, 1350T>C (human)
mRNA:decreased expression:nasal mucosa:
associated with Sinusitis;DNA:SNPs: :multiple (human)		 RGD PMID:19763595 PMID:18219831 PMID:19128592 RGD:4145354, RGD:7800742, RGD:4145356 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr6 toll-like receptor 6 ISO associated with Asthma;DNA:SNP: :rs2381289 (human) RGD PMID:20815312 RGD:4145352 NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685 		JBrowse link
G Tnf tumor necrosis factor ISO
IEP		 mRNA:increased expression:nose RGD PMID:15120189 PMID:20696593 RGD:4143470, RGD:4145454 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:sputum RGD PMID:19178538 RGD:6892723 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vip vasoactive intestinal peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:12746121 PMID:14680090 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216 		JBrowse link
rhinoscleroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:haplotype: : RGD PMID:17321882 RGD:8547664 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:haplotype: : RGD PMID:17321882 RGD:8547664 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
Rhinosinusitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa1 annexin A1 ISO associated with Nasal Polyps RGD PMID:22279949 RGD:7421555 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343 		JBrowse link
G C3 complement C3 ISO protein:increased expression:serum RGD PMID:19593977 RGD:4889484 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C4a complement C4A disease_progression ISO DNA:deletion: : RGD PMID:16879240 RGD:5688262 NCBI chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO RGD PMID:16702571 RGD:7483585 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629 		JBrowse link
G Hgf hepatocyte growth factor susceptibility ISO DNA:haplotype::rs38850,rs38855,rs38857(human) RGD PMID:20416453 RGD:8548615 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA:increased expression:nose: RGD PMID:20713758 RGD:8548883 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il10 interleukin 10 ISO protein:decreased expression:blood, mononuclear cell RGD PMID:23168151 RGD:7364820 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il17a interleukin 17A ISO associated with Asthma;mRNA, protein:increased expression:nasal polyps (human) RGD PMID:19672092 RGD:4889146 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:nasal cavity epithelium RGD PMID:11197112 RGD:7401169 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il22ra1 interleukin 22 receptor subunit alpha 1 susceptibility ISO DNA:SNPs:5' utr, intron: (rs4292900, rs16829225, rs4648936) (human) RGD PMID:19393422 RGD:5147411 NCBI chr 5:147,961,496...147,986,296
Ensembl chr 5:147,961,349...147,986,296 		JBrowse link
G Il4 interleukin 4 treatment ISO associated with Asthma RGD PMID:12787306 RGD:7829803 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:23401274 RGD:8547880 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming treatment IDA RGD PMID:23131200 PMID:19389874 RGD:7349403, RGD:7364734 NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475 		JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 severity ISO associated with Nasal Polyps RGD PMID:22961479 RGD:7777146 NCBI chr 3:61,575,447...61,594,393
Ensembl chr 3:61,575,447...61,594,347 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:nasal mucosa (human) RGD PMID:21711960 RGD:6483796 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO mRNA,protein:increased expression:paranasal sinus
DNA:polymorphisms:: rs3804099,rs3804100(human)		 RGD PMID:22182736 PMID:21493395 RGD:7800733, RGD:8552975 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:paranasal sinus RGD PMID:22182736 RGD:7800733 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:nasal cavity epithelium RGD PMID:11197112 PMID:20147558 RGD:7401169, RGD:7401236 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Rhinosinusitis, Allergic Fungal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0302 (human) RGD PMID:15577839 RGD:5147654 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
Seasonal Allergic Rhinitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:16677242 RGD:5147463 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743 		JBrowse link
G Apoa4 apolipoprotein A4 resistance ISO protein:increased expression:blood serum (human) RGD PMID:20810159 RGD:5685642 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Bdnf brain-derived neurotrophic factor severity ISO protein:increased expression:blood, nasal cavity epithelium RGD PMID:18266897 RGD:5144117 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased expression:inferior turbinate, epithelium (human) RGD PMID:20459697 RGD:4891379 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Cma1 chymase 1 ISO protein:increased expression:nasal mucosa, mast cell (human) RGD PMID:11549546 RGD:5128839 NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233 		JBrowse link
G Fga fibrinogen alpha chain ISO RGD PMID:21887273 RGD:5688767 NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528 		JBrowse link
G Gsto1 glutathione S-transferase omega 1 ISO protein:decreased expression;T lymphocyte: RGD PMID:21410266 RGD:5491008 NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased secretion:nasopharynx, secretion (human) RGD PMID:20128420 RGD:4145459 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO DNA: SNP: Leu467Pro RGD PMID:12851715 RGD:6480431 NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785 		JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:19505388 RGD:7365025 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il18 interleukin 18 susceptibility
no_association		 ISO DNA:SNPs:promoters, exon:multiple
DNA:SNPs:promoters:multiple		 RGD PMID:12532106 PMID:12532106 RGD:8655871, RGD:8655871 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:serum
mRNA:increased expression:nose:		 RGD PMID:9237816 PMID:7551298 RGD:7829817, RGD:8662960 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:nasal cavity of mucosa: RGD PMID:17651148 RGD:8551771 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Mc1r melanocortin 1 receptor no_association ISO RGD PMID:20357480 RGD:5687317 NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO DNA:SNPs:promoter, intron, cds:-1590C>T, 2127G>T, p.R668Q (rs3918242, rs2274755, rs17577) (human) RGD PMID:22237587 RGD:8547819 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nod1 nucleotide-binding oligomerization domain containing 1 susceptibility ISO DNA:SNP: :rs2075817 (human) RGD PMID:16918516 RGD:5131519 NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility ISO DNA:polymorphisms:5'UTR/exon, exon:rs5743266, rs2066842 (human) RGD PMID:16008671 RGD:5131477 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO protein:increased expression:respiratory system epithelium RGD PMID:19364335 RGD:5147461 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*05 (human)
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0301, HLA-DQB1*0501 (human)		 RGD PMID:22032123 PMID:9641569 RGD:7421561, RGD:7421576 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO mRNA, protein:decreased expression:nasal lavage fluid RGD PMID:15836756 RGD:5144234 NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610 		JBrowse link
G Tlr3 toll-like receptor 3 ISO protein:decreased expression:bone marrow, blood, eosinophil (human) RGD PMID:19752565 RGD:5129130 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphisms:cds:p.D299G, T399I (human) RGD PMID:18517079 RGD:4144192 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA,protein:increased expression:nasal biopsies,nasal lavage fluid: RGD PMID:12633568 RGD:7483595 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
sinonasal undifferentiated carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maml3 mastermind-like transcriptional coactivator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859338 NCBI chr 2:135,720,431...136,137,829
Ensembl chr 2:135,721,021...136,137,814 		JBrowse link
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859338 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO RGD PMID:30120966 RGD:127285653 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
sinusitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Azgp1 alpha-2-glycoprotein 1, zinc-binding ISO CTD Direct Evidence: marker/mechanism CTD PMID:18391768 NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO RGD PMID:19786211 RGD:5130914 NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231 		JBrowse link
G Cfb complement factor B ISO protein:decreased expression:serum RGD PMID:14510109 RGD:7411729 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cftr CF transmembrane conductance regulator susceptibility ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16083808 PMID:11773581 RGD:4140477 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Chia chitinase, acidic severity ISO mRNA:decreased expression:sinus, epithelial cell (human) RGD PMID:19379605 RGD:5037227 NCBI chr 2:193,614,374...193,656,532
Ensembl chr 2:193,614,114...193,656,533 		JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO associated with Rhinitis;mRNA:increased expression:paranasal sinus RGD PMID:19153309 RGD:5135257 NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093 		JBrowse link
G Il13 interleukin 13 susceptibility ISO associated with asthma; DNA:polymorphisms:promoter:c. -1510A>C, -1055C>T (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20358028 PMID:20358028 RGD:4145767 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il1b interleukin 1 beta ISO associated with Hypersensitivity RGD PMID:16358839 RGD:4143214 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:11758471 RGD:8662964 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Lta lymphotoxin alpha susceptibility ISO DNA:polymorphism: : RGD PMID:11037831 RGD:4143260 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18391768 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:: RGD PMID:20392482 RGD:5130763 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO protein:increased secretion:sinus mucus RGD PMID:17063754 RGD:5131192 NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO RGD PMID:18396779 RGD:4892328 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein: increased expression: nasal cavity epithelium RGD PMID:21255638 RGD:6483060 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pip prolactin induced protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18391768 NCBI chr 4:70,787,627...70,791,921
Ensembl chr 4:70,787,627...70,791,921 		JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:21711960 RGD:6483796 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO RGD PMID:21711960 RGD:6483796 NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595 		JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18391768 NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083 		JBrowse link
G Scgb3a2 secretoglobin, family 3A, member 2 ISO mRNA,protein:decreased expression:nasal mucosa RGD PMID:21385388 RGD:5147389 NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762 		JBrowse link
G Sftpa1 surfactant protein A1 ISO associated with Cystic Fibrosis;mRNA:increased expression:respiratory system mucosa RGD PMID:17599561 RGD:4143506 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685 		JBrowse link
G Sftpd surfactant protein D ISO associated with Cystic Fibrosis;mRNA:increased expression:respiratory system mucosa RGD PMID:17599561 RGD:4143506 NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:nasal cavity epithelium: RGD PMID:14743629 RGD:8552991 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 ISO associated with Pneumococal Infections;
mRNA:increased expression:nasal cavity epithelium:		 RGD PMID:16301373 PMID:14743629 RGD:7800729, RGD:8552991 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tlr9 toll-like receptor 9 ISO Chronic Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human)
Acute Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human)		 RGD PMID:17283572 PMID:18416964 RGD:5130870, RGD:5130708 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796 		JBrowse link
tonsillitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igfbp3 insulin-like growth factor binding protein 3 treatment ISO RGD PMID:27738609 RGD:12743605 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
torsion dystonia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Torsion dystonia 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2358646 PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 More... NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291 		JBrowse link
tracheal disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator ISO DNA:deletion,mutation: : RGD PMID:18450781 RGD:4140433 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
tracheal stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drd1 dopamine receptor D1 IEP mRNA:decreased expression:medial dorsal nucleus of thalamus (rat) RGD PMID:21527662 RGD:7248613 NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 susceptibility ISO associated with Ventilator-Induced Lung Injury;DNA:polymorphism: :-509C>T (human) RGD PMID:20172396 RGD:4145116 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
Tracheoesophageal Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182 		JBrowse link
G Amer3 APC membrane recruitment protein 3 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 9:36,790,355...36,802,341
Ensembl chr 9:36,790,932...36,802,419 		JBrowse link
G Ap1g2 adaptor related protein complex 1 subunit gamma 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr15:28,571,571...28,579,421
Ensembl chr15:28,571,568...28,589,004 		JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310 		JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP RGD PMID:16818050 RGD:2289003 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:8673090 PMID:8988179 PMID:9150172 PMID:9536098 PMID:9667259 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845 		JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IEP associated with Esophageal Atresia;mRNA:decreased expression: tracheoesophageal septum, epithelium, mesenchyme (rat) RGD PMID:15065023 RGD:12801427 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125 		JBrowse link
G Gls glutaminase ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900 		JBrowse link
G Gtf3c1 general transcription factor IIIC subunit 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 1:180,203,995...180,270,201
Ensembl chr 1:180,203,995...180,270,201 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829 		JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645 		JBrowse link
G Klhl17 kelch-like family member 17 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925 		JBrowse link
G Lurap1l leucine rich adaptor protein 1-like ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 5:95,362,005...95,409,439
Ensembl chr 5:95,362,005...95,409,438 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:17200668 PMID:23824750 PMID:25741868 PMID:26283626 PMID:26315354 More... NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990 		JBrowse link
G Pcdh1 protocadherin 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr18:30,011,692...30,039,679
Ensembl chr18:30,013,185...30,039,318 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600 		JBrowse link
G Pik3c2g phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 4:172,483,752...172,851,623
Ensembl chr 4:172,484,345...172,850,544 		JBrowse link
G Polr2b RNA polymerase II subunit B ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr14:30,797,228...30,834,916
Ensembl chr14:30,797,228...30,834,916 		JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		JBrowse link
G Sclt1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:25741868 PMID:28492532 PMID:36135330 PMID:36474027 NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763 		JBrowse link
G Tecpr1 tectonin beta-propeller repeat containing 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr12:10,391,587...10,420,462
Ensembl chr12:10,391,696...10,419,611 		JBrowse link
G Tlr9 toll-like receptor 9 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796 		JBrowse link
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr14:7,578,245...7,810,491
Ensembl chr14:7,606,628...7,810,482 		JBrowse link
tuberculoid leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407 		JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplane2 ciliogenesis and planar polarity effector complex subunit 2 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 5:153,515,507...153,516,455
Ensembl chr 5:153,515,376...153,522,508 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183 		JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532 NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255 		JBrowse link
G Fn1 fibronectin 1 IEP protein:increased expression:embryo RGD PMID:14986037 RGD:7205466 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:2629409 PMID:26294094 NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO RGD PMID:11172440 RGD:155791680 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO RGD PMID:11172440 RGD:155791680 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: VACTERL association
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:19006232 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963 		JBrowse link
G Ift172 intraflagellar transport 172 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:192350 | OMIM:276950
DNA:mutation:exon:p.C470R(mouse)		 CTD
MouseDO
RGD		 PMID:18519639 PMID:18519639 RGD:11556208 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600 		JBrowse link
G Qsox1 quiescin sulfhydryl oxidase 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr13:67,949,780...67,987,434
Ensembl chr13:67,949,780...67,987,459 		JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:12632369 RGD:12801426 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415 		JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO ClinVar Annotator: match by term: VACTERL association ClinVar PMID:25741868 NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981 		JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain, 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459 		JBrowse link
G Fancb FA complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome		 CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 NCBI chr  X:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192 		JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus ClinVar PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More... NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly		 CTD
ClinVar		 PMID:9259288 PMID:10866302 PMID:11071384 PMID:11748304 PMID:15492994 More... NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705 		JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus		 OMIM
CTD
ClinVar		 PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More... NCBI chr  X:136,123,662...136,129,627
Ensembl chr  X:136,124,026...136,134,746 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      respiratory system disease 5243
        upper respiratory tract disease 429
          acute laryngopharyngitis 0
          adenoid hypertrophy 0
          adenoiditis 1
          common cold 19
          epiglottitis 0
          laryngeal disease + 70
          laryngotracheitis 0
          leprosy + 35
          mucocutaneous leishmaniasis 3
          nasopharyngeal disease + 74
          nose disease + 233
          pharyngitis + 2
          scarlet fever 0
          tonsillitis + 1
          tracheal disease + 55
          uvulitis 0
paths to the root