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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:primary_id: RDO:9004963
 xref: ICD9CM:478.19
For additional species annotation, visit the Alliance of Genome Resources.


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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:28492532 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
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 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Ace angiotensin I converting enzyme no_association ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15112973 RGD:8142345 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA, protein:increased expression:nasal mucosa (rat) RGD PMID:15362690 RGD:11522724 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29028686 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 treatment IDA RGD PMID:23089405 RGD:7248414 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:oronasal secretion (human) RGD PMID:23883806 RGD:7364793 NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:lymphocyte RGD PMID:19086656 RGD:8547782 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:lymphocyte RGD PMID:19086656 RGD:8547782 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment ISO RGD PMID:10436391 RGD:11344920 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G F2 coagulation factor II ISO protein:increased expression:nasal mucus RGD PMID:21711961 RGD:5147783 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa susceptibility ISO DNA:polymorphism:exon:p.F158V(rs396991)(human) RGD PMID:18199088 RGD:5508449 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Hrh1 histamine receptor H 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23333628 NCBI chr 4:146,374,596...146,458,148
Ensembl chr 4:146,455,332...146,457,074
JBrowse link
G Ifng interferon gamma treatment ISO
IDA
associated with Asthma RGD PMID:12787306, PMID:18510219 RGD:7829803, RGD:10755770 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:23883806, PMID:23253209 RGD:7364793, RGD:7364818 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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
PMID:17091279, PMID:22852128, PMID:12928861, PMID:23996716 RGD:4152796, RGD:8549518, RGD:8549516, RGD:8549501 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO protein:increased expression:serum RGD PMID:21462799 RGD:8549521 NCBI chr  X:118,443,955...118,514,716
Ensembl chr  X:118,443,823...118,513,061
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 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:nasal mucus RGD PMID:7750009 RGD:7401199 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il2 interleukin 2 IEP RGD PMID:12592663 RGD:8662963 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il4 interleukin 4 treatment ISO
IEP
RGD PMID:9893928, PMID:24620662, PMID:8908280, PMID:14653048 RGD:7829796, RGD:11522769, RGD:7829827, RGD:7829802 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il5 interleukin 5 treatment IEP RGD PMID:23934070, PMID:24620662 RGD:11354976, RGD:11522769 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming IEP mRNA, protein:increased expression:nasal cavity epithelium RGD PMID:22972875 RGD:7364746 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO mRNA:increased expression:nasal mucosa (human) RGD PMID:23858718 RGD:8547523 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Pon1 paraoxonase 1 severity ISO protein:decreased activity:plasma (human) RGD PMID:23406590 RGD:8547583 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 IEP protein:increased expression:nasal cavity epithelium RGD PMID:24012634 RGD:7775060 NCBI chr 1:248,982,039...250,300,952 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16979129 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G RT1-M3-1 RT1 class Ib, locus M3, gene 1 ISO RGD PMID:20487636 RGD:5144132 NCBI chr20:1,814,661...1,833,033
Ensembl chr20:1,814,661...1,818,800
JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO mRNA:decreased expression:nasal mucosa, lung RGD PMID:17882576 RGD:5144135 NCBI chr 1:225,279,698...225,283,246
Ensembl chr 1:225,279,676...225,283,326
JBrowse link
G Scgb3a2 secretoglobin, family 3A, member 2 susceptibility ISO DNA:SNP: :rs7726552 (human) RGD PMID:21410962 RGD:5144225 NCBI chr18:38,292,822...38,295,744
Ensembl chr18:38,292,701...38,295,831
JBrowse link
G Serpine1 serpin family E member 1 ISO mRNA:increased expression:nasal mucosa (mouse) RGD PMID:21339035 RGD:8547809 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Tacr1 tachykinin receptor 1 IEP mRNA:increased expression:nasal mucosa RGD PMID:12768696 RGD:5147835 NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment IEP RGD PMID:31368266 RGD:14995445 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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, PMID:19763595 RGD:7800732, RGD:8552993, RGD:7800740, RGD:7800738, RGD:7800736, RGD:4145354 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr9 toll-like receptor 9 ISO protein:decreased expression:nasal mucosa: RGD PMID:22577387 RGD:7800740 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
Allergic Rhinoconjunctivitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 treatment ISO associated with Eosinophilic Esophagitis; DNA:polymorphisms:: RGD PMID:26416193 RGD:11352743 NCBI chr 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007
JBrowse link
G Il3 interleukin 3 susceptibility ISO DNA:SNP: :rs40401(human) RGD PMID:23953855 RGD:13506915 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
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 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 21
ClinVar Annotator: match by term: Myopathy, distal, 2
ClinVar Annotator: match by OMIM:606070
OMIM
ClinVar
PMID:9837826, PMID:19344878, PMID:24686783, PMID:25154462, PMID:25185957, PMID:25677933, PMID:25741868, PMID:25771394, PMID:25952333, PMID:26467025, PMID:26493020, PMID:26528920, PMID:26780671, PMID:28492532, PMID:29525178 NCBI chr18:28,351,691...28,390,764
Ensembl chr18:28,361,283...28,390,717
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 microphthalmia
CTD
OMIM
ClinVar
PMID:672092, PMID:5032329, PMID:6802865, PMID:8446727, PMID:8723126, PMID:11321738, PMID:16353241, PMID:23143600, PMID:23432817, PMID:23852095, PMID:26440771, PMID:26842768, PMID:28067909, PMID:28067911 NCBI chr 9:119,675,750...119,818,620
Ensembl chr 9:119,676,628...119,818,310
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:29751792 NCBI chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361
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 chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
JBrowse link
G Tbx21 T-box transcription factor 21 ISO ClinVar Annotator: match by null ClinVar PMID:15806396 NCBI chr10:85,032,799...85,049,331
Ensembl chr10:85,032,799...85,049,331
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:30643255 NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
JBrowse link
G Ptger2 prostaglandin E receptor 2 ISO OMIM NCBI chr15:19,336,029...19,349,759
Ensembl chr15:19,338,175...19,350,210
JBrowse link
G Tbx21 T-box transcription factor 21 ISO ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance OMIM
ClinVar
PMID:25741868 NCBI chr10:85,032,799...85,049,331
Ensembl chr10:85,032,799...85,049,331
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 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
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 chr18:76,637,415...76,661,186
Ensembl chr18:76,637,785...76,653,056
JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:77,343,551...77,535,608
Ensembl chr18:77,343,551...77,535,593
JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,922,913...76,985,095
Ensembl chr18:76,922,934...76,984,203
JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,243,009...79,258,570
Ensembl chr18:79,243,009...79,258,570
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 chr18:76,748,067...76,754,642
Ensembl chr18:76,748,067...76,753,902
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 chr18:76,808,294...76,880,742
Ensembl chr18:76,809,144...76,878,981
JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:77,203,517...77,322,690
Ensembl chr18:77,203,525...77,322,690
JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,559,877...76,627,843
Ensembl chr18:76,559,811...76,628,041
JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,704,223...76,714,387
Ensembl chr18:76,704,220...76,714,486
JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:77,572,200...77,591,710
Ensembl chr18:77,573,702...77,579,969
JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,768,466...76,805,773
Ensembl chr18:76,770,012...76,805,766
JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Burn-Mckeown syndrome
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
OMIM
PMID:1342861, PMID:14564154, PMID:16523509, PMID:25434003 NCBI chr18:76,725,221...76,740,673
Ensembl chr18:76,725,247...76,740,688
JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,447,384...79,543,271
Ensembl chr18:79,451,204...79,543,219
JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,768,387...79,857,909
Ensembl chr18:79,773,608...79,854,192
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 Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO 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, PMID:12707075, PMID:15805163, PMID:20849849, PMID:21840889, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
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 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
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 ClinVar
OMIM
PMID:8418638, PMID:27738187 NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
JBrowse link
choanal atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Choanal atresia ClinVar PMID:28250423, PMID:28492532, PMID:28972118, PMID:29300326, PMID:30311386 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Choanal atresia ClinVar PMID:30311386 NCBI chr10:46,153,185...46,172,331
Ensembl chr10:46,153,188...46,172,309
JBrowse link
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Choanal atresia ClinVar PMID:28492532, PMID:30311386 NCBI chr 6:7,984,043...8,066,874
Ensembl chr 6:7,984,019...8,066,868
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Choanal atresia ClinVar PMID:9562578, PMID:10736283, PMID:11499718, PMID:11499719, PMID:11847170, PMID:14563344, PMID:15519027, PMID:16679492, PMID:19273718, PMID:19356534, PMID:19574547, PMID:20505798, PMID:22057632, PMID:22115648, PMID:22569109, PMID:22574137, PMID:24033266, PMID:25335496, PMID:25741868, PMID:27108529, PMID:27532257, PMID:28492532, PMID:30311386 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Choanal atresia ClinVar PMID:25741868, PMID:30311386 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Choanal atresia ClinVar PMID:25741868, PMID:30311386 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Choanal atresia ClinVar PMID:22958901, PMID:24033266, PMID:24093860, PMID:25741868, PMID:26507537, PMID:28255936, PMID:28492532, PMID:30311386 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
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
ClinVar Annotator: match by OMIM:613611
OMIM
ClinVar
PMID:20826270 NCBI chr13:108,689,916...108,841,593
Ensembl chr13:108,696,336...108,841,511
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 chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
Chronic Rhinosinusitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17a interleukin 17A ISO protein:increased expression:uncinate process, nasal mucosa (human) RGD PMID:23613503 RGD:8696039 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:decreased activity:serum: RGD PMID:23144819 RGD:8693716 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Prg2 proteoglycan 2 disease_progression ISO associated with Nasal Polyps; RGD PMID:24450586 RGD:13506943 NCBI chr 3:72,385,678...72,389,245
Ensembl chr 3:72,385,666...72,389,276
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 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO protein:increased expression:bronchus RGD PMID:11865407 RGD:4890421 NCBI chr12:6,854,930...6,879,112
Ensembl chr12:6,854,920...6,879,154
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:20696083 RGD:4140458 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
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 chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
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 chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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 chr14:18,820,168...18,839,659
Ensembl chr14:18,820,168...18,839,595
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO associated with Asthma RGD PMID:12751040 RGD:5135264 NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO RGD PMID:19864593 RGD:5131210 NCBI chr 9:81,427,275...81,435,065
Ensembl chr 9:81,427,730...81,434,102
JBrowse link
G Defb4 defensin beta 4 ISO mRNA, protein:increased expression:nasal cavity epithelium, nasal mucus RGD PMID:15034083 RGD:4892264 NCBI chr16:75,634,598...75,637,789
Ensembl chr16:75,634,598...75,637,789
JBrowse link
G Il10 interleukin 10 ISO RGD PMID:20696083 RGD:4140458 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:nasal mucus RGD PMID:10358201 RGD:4143183 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:nasal mucus RGD PMID:7734976 RGD:7401200 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il33 interleukin 33 ISO protein:increased expression:nasal mucus RGD PMID:28471975 RGD:38596342 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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 chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Tslp thymic stromal lymphopoietin ISO protein:increased expression:nasal mucus (human) RGD PMID:28471975 RGD:38596342 NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
JBrowse link
distal hereditary motor neuronopathy type 7A 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 viia ClinVar PMID:28492532 NCBI chr20:28,076,784...28,158,053
Ensembl chr20:28,078,500...28,157,071
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:27,832,960...27,879,764
Ensembl chr20:27,832,932...27,879,759
JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:27,895,981...28,004,767
Ensembl chr20:27,954,433...28,002,082
JBrowse link
G LOC100910235 sulfotransferase 1C1-like ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 9:4,323,997...4,328,175
Ensembl chr 9:4,324,211...4,327,679
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664
JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia
ClinVar Annotator: match by OMIM:158580
OMIM
ClinVar
PMID:7420092, PMID:11294660, PMID:23141292, PMID:25741868, PMID:27569547, PMID:28492532 NCBI chr 9:5,294,377...5,330,822
Ensembl chr 9:5,294,381...5,330,815
JBrowse link
G Sult1c2a sulfotransferase family, cytosolic, 1C, member 2a ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 9:4,152,588...4,168,355
Ensembl chr 9:4,152,589...4,168,221
JBrowse link
G Sult1c3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 9:4,931,038...4,978,847
Ensembl chr 9:4,930,818...4,978,892
JBrowse link
distal hereditary motor neuronopathy type 7B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 7B
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB
OMIM
ClinVar
PMID:12062019, PMID:12627231, PMID:15326253, PMID:16505168, PMID:17824900, PMID:18094236, PMID:18364389, PMID:18812314, PMID:19279216, PMID:19506225, PMID:22777741, PMID:23143281, PMID:24627108, PMID:25025039, PMID:25299611, PMID:25382069, PMID:25635128, PMID:25741868, PMID:26392352, PMID:26429889, PMID:26467025, PMID:26662454, PMID:27132499, PMID:27573046, PMID:28130640, PMID:28430856, PMID:28492532, PMID:29525180 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:16714318, PMID:18425620, PMID:21715711, PMID:22206013, PMID:26955893, PMID:28492532 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:26467025, PMID:28492532 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:16728649, PMID:17564964 NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309
JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24776970, PMID:28492532, PMID:29213238 NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24533459 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:20037586, PMID:20037587, PMID:20037588, PMID:20460441, PMID:21336783, PMID:22702953, PMID:24575025, PMID:24789864, PMID:24963089, PMID:25900305, PMID:26110311, PMID:26467025, PMID:26948711, PMID:27751652, PMID:28492532 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
Dysphonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Dysphonia ClinVar PMID:12601710, PMID:14561495, PMID:15805163, PMID:17039978, PMID:17433678, PMID:18021315, PMID:18504680, PMID:18991200, PMID:19500985, PMID:19782751, PMID:20232219, PMID:21199105, PMID:21753178, PMID:21890626, PMID:22971097, PMID:25231362, PMID:25326637, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
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: nosebleed ClinVar PMID:15687131, PMID:16540754, PMID:17786384, PMID:18159113, PMID:20501893, PMID:21378382, PMID:22632830, PMID:23298310, PMID:23919827, PMID:25741868, PMID:26387786, PMID:28492532, PMID:30311386, PMID:32581362 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Eng endoglin ISO RGD PMID:10562296 RGD:11041563 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion:cds (human) RGD PMID:18066575 RGD:7794809 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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:9150172, PMID:9667259, PMID:9792861, PMID:11307153, PMID:15131399, PMID:15382066, PMID:16683254, PMID:17148771, PMID:19863560, PMID:20694749, PMID:21324516, PMID:23199084, PMID:23318356, PMID:23621881, PMID:24033266, PMID:25741868, PMID:26295337, PMID:26467025, PMID:28008555, PMID:28492532 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16116421, PMID:16116423, PMID:16116424, PMID:16153896, PMID:17033622, PMID:19127258, PMID:19763819, PMID:20177395, PMID:20639400, PMID:21165771, PMID:21345144, PMID:21964575, PMID:22006311, PMID:24240112, PMID:24556621, PMID:25741868, PMID:25980754, PMID:26315354, PMID:26467025, PMID:26681312, PMID:26822949, PMID:26845104, PMID:26921362, PMID:26968956, PMID:27179029, PMID:28492532, PMID:29368626 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Gli2 GLI family zinc finger 2 IEP RGD PMID:12947339 RGD:12801415 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Nog noggin ISO
ISS
OMIM:189960 MouseDO PMID:17260385 RGD:12801454 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:25003913 RGD:12801416 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
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 chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
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 CTD PMID:19852433, PMID:21532573 NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
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: Feingold syndrome 1 ClinVar
OMIM
PMID:15821734, PMID:16906565, PMID:18470948, PMID:18671284, PMID:20301770, PMID:25741868 NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
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 chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857
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 2:243,500,540...243,516,865
Ensembl chr 2:243,502,073...243,516,532
JBrowse link
G Egfr epidermal growth factor receptor severity ISO protein:increased expression:tumor (human) RGD PMID:8883413 RGD:5131485 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO protein:increased expression:larynx RGD PMID:18335753 RGD:4140949 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:17786346 RGD:5130203 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nat1 N-acetyltransferase 1 susceptibility ISO DNA:polymorphism: : RGD PMID:12037388 RGD:5131864 NCBI chr16:23,970,742...23,991,573
Ensembl chr16:23,970,743...23,991,573
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 severity ISO protein:increased expression:larynx RGD PMID:20429377 RGD:5135434 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16299231 RGD:1581365 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
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 chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Serpina3m serpin family A member 3M ISO protein:decreased expression:serum RGD PMID:16273852 RGD:5147435 NCBI chr 6:127,808,785...127,816,067
Ensembl chr 6:127,808,785...127,816,055
JBrowse link
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N ISO protein:decreased expression:serum RGD PMID:16273852 RGD:5147435 NCBI chr 6:128,073,344...128,080,878
Ensembl chr 6:127,941,526...128,080,889
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO RGD PMID:10618282 RGD:5147846 NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
JBrowse link
laryngeal 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:15646812 RGD:8662837 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:17786346 RGD:5130203 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:19922706, PMID:16155914 RGD:5131602, RGD:5131856 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
Laryngo Onycho Cutaneous Syndrome 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
ClinVar Annotator: match by term: Laryngoonychocutaneous syndrome
ClinVar Annotator: match by OMIM:245660
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11810295, PMID:12915477, PMID:24033266, PMID:25363238, PMID:25741868, PMID:28492532 NCBI chr18:3,704,866...3,941,215
Ensembl chr18:3,705,916...3,940,838
JBrowse link
Laryngomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr 1:165,382,279...165,480,088
Ensembl chr 1:165,382,690...165,479,655
JBrowse link
G Car2 carbonic anhydrase 2 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029
JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr 4:157,612,531...157,645,660
Ensembl chr 4:157,612,536...157,645,659
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr 1:166,898,177...166,912,524
Ensembl chr 1:166,899,894...166,912,524
JBrowse link
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:18382993, PMID:21327084, PMID:27336722, PMID:27830109, PMID:30311386 NCBI chr13:100,431,390...100,450,209 JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr19:25,783,686...25,801,526
Ensembl chr19:25,783,900...25,801,526
JBrowse link
G Nags N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr10:90,084,607...90,089,693
Ensembl chr10:90,085,559...90,089,693
JBrowse link
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:25741868 NCBI chr19:25,818,640...25,914,777
Ensembl chr19:25,821,780...25,914,696
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G P4hb prolyl 4-hydroxylase subunit beta ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr10:109,736,459...109,748,070
Ensembl chr10:109,736,458...109,747,987
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412
JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr 3:177,098,137...177,162,937
Ensembl chr 3:177,098,073...177,162,916
JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr 1:219,964,429...220,006,811
Ensembl chr 1:219,964,429...220,005,068
JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:28492532, PMID:30311386 NCBI chr20:5,535,434...5,564,657
Ensembl chr20:5,535,432...5,564,437
JBrowse link
G Tbx3 T-box transcription factor 3 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr12:42,479,518...42,494,588
Ensembl chr12:42,480,560...42,492,526
JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr20:29,897,543...29,923,381
Ensembl chr20:29,897,594...29,919,998
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr19:46,761,353...47,695,247 JBrowse link
larynx cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion: : RGD PMID:19252926 RGD:4140943 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO RGD PMID:10067818 RGD:5135043 NCBI chr 2:210,685,204...210,688,273
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO RGD PMID:10067818 RGD:5135043 NCBI chr 2:210,685,338...210,688,133
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 onset ISO DNA:insertion:Cds: 3020_3021insC (human) RGD PMID:20223031 RGD:5131515 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cfb complement factor B severity ISO RGD PMID:6342123 RGD:7411735 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:SNP:cds:161G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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 chr13:109,713,376...109,726,438
Ensembl chr13:109,713,489...109,724,863
JBrowse link
G Ccdc88b coiled-coil domain containing 88B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr 1:222,102,436...222,118,485
Ensembl chr 1:222,102,437...222,118,459
JBrowse link
G Il17a interleukin 17A severity ISO mRNA:decreased expression:epidermis (human) RGD PMID:22641009 RGD:8698644 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il23r interleukin 23 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Lta lymphotoxin alpha susceptibility ISO ClinVar Annotator: match by synonym: Leprosy, early-onset, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:15052269, PMID:17353895 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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 chr17:81,352,700...81,433,743
Ensembl chr17:81,352,700...81,433,743
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO DNA:polymorphisms: :multiple (human) RGD PMID:20350193 RGD:5508743 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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:12730996, PMID:12891670, PMID:14519684, PMID:15390068, PMID:15970950, PMID:16049031, PMID:16714300, PMID:17766365, PMID:19162522, PMID:19636047, PMID:19801972, PMID:20457763, PMID:20798600, PMID:22118943, PMID:22555654, PMID:23531835, PMID:24033266, PMID:24082139, PMID:24831986, PMID:25591737, PMID:25741868, PMID:25815004, PMID:25907632, PMID:25939424, PMID:26188007, PMID:26467025, PMID:26764160, PMID:26836416, PMID:26855076, PMID:27182553, PMID:27294386, PMID:28492532, PMID:30311386 NCBI chr 1:48,880,015...50,069,998 JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 1:4,638,663...4,653,220
Ensembl chr 1:4,637,491...4,653,210
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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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 PMID:16597321, PMID:15755200, PMID:10608779 RGD:5684957, RGD:5684972 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Tlr1 toll-like receptor 1 susceptibility ISO DNA:snp:cds:p.I602S (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leprosy, protection against
ClinVar Annotator: match by OMIM:613223
CTD
OMIM
ClinVar
PMID:17475868, PMID:17548585, PMID:18461142, PMID:19456232, PMID:23105135, PMID:26729809, PMID:17548585 RGD:7246917 NCBI chr14:45,062,662...45,065,014
Ensembl chr14:45,062,662...45,081,991
JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO DNA:polymorphisms:microsatellite,597C>T(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:246300
CTD
OMIM
ClinVar
PMID:11476982, PMID:12646604, PMID:15726416, PMID:19111445, PMID:18177245 RGD:8553055 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25320285 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
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
ClinVar Annotator: match by OMIM:247100
ClinVar
OMIM
PMID:11929856, PMID:12472532, PMID:12603844, PMID:16172042, PMID:17063986, PMID:17199583, PMID:17927570, PMID:24708644, PMID:25529926, PMID:25741868, PMID:11929856 RGD:734912 NCBI chr 2:197,855,468...197,860,973
Ensembl chr 2:197,855,460...197,860,699
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 chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
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 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Lta lymphotoxin alpha ISO DNA:polymorphism:intron RGD PMID:7595196 RGD:8548799 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:7595196 RGD:8548799 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:20353806 RGD:5147577 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:insertion/deletion:3' utr (human) RGD PMID:11791966 RGD:5684970 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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 chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
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 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:19950227 RGD:8547762 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
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 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Adrb2 adrenoceptor beta 2 susceptibility ISO DNA:polymorphism:p.R16G(human) RGD PMID:17621827 RGD:8548469 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO mRNA:decreased expression:nasal cavity epithelium RGD PMID:20554417 RGD:5509597 NCBI chr10:56,851,734...56,864,049
Ensembl chr10:56,851,734...56,864,005
JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO mRNA:increased expression:nasal cavity epithelium
CTD Direct Evidence: marker/mechanism
CTD PMID:30643255, PMID:20554417 RGD:5509597 NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
JBrowse link
G Ang angiogenin ISO RGD PMID:21711968 RGD:6892710 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Anxa1 annexin A1 ISO RGD PMID:20549082 RGD:7421567 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
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 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Cat catalase ISO protein:increased activity:nasal concha: RGD PMID:16287205 RGD:9479048 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl1 C-C motif chemokine ligand 1 ISO associated with Sinusitis RGD PMID:20598643 RGD:4891418 NCBI chr10:69,534,976...69,537,836
Ensembl chr10:69,534,933...69,537,882
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO mRNA:increased expression:nasal cavity epithelium RGD PMID:10415058 RGD:4145448 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:sinus: RGD PMID:22287435 RGD:7483612 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ccl24 C-C motif chemokine ligand 24 ISO mRNA:increased expression:nasal cavity epithelium RGD PMID:10415058 RGD:4145448 NCBI chr12:24,131,529...24,152,626
Ensembl chr12:24,148,567...24,152,625
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 chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:22287435 RGD:7483612
G Ccr6 C-C motif chemokine receptor 6 ISO associated with Rhinosinusitis RGD PMID:22287435 RGD:7483612 NCBI chr 1:53,063,380...53,087,519
Ensembl chr 1:53,065,025...53,087,474
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 2:208,750,348...208,797,388
Ensembl chr 2:208,749,996...208,797,402
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 chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
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 chr14:18,820,168...18,839,659
Ensembl chr14:18,820,168...18,839,595
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:77,671,028...77,700,491
Ensembl chr  X:77,674,150...77,700,269
JBrowse link
G Egr1 early growth response 1 ISO mRNA:increased expression:nasal polyp (human) RGD PMID:19158123 RGD:4890001 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Fas Fas cell surface death receptor ISO protein:decreased expression:nasal polyp (human) RGD PMID:15283292 RGD:8662435 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fgf1 fibroblast growth factor 1 ISO RGD PMID:16720444 RGD:8655569 NCBI chr18:32,273,830...32,359,831
Ensembl chr18:32,273,770...32,359,824
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:16720444 RGD:8655569 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO associated with GSTT1 null genotype:DNA:deletion: : RGD PMID:16550944 RGD:4142528 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion: : RGD PMID:19701760 RGD:4142518 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hgf hepatocyte growth factor ISO mRNA,protein:increased expression:nasal cavity mucosa: RGD PMID:16982975 RGD:8548613 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:nasal cavity epithelium RGD PMID:11593541 RGD:8547687 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifng interferon gamma ISO protein:increased expression:nasal mucosa, tissue: RGD PMID:9149164 RGD:8158035 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA:increased expression:nasal cavity mucosa: RGD PMID:18202785 RGD:8548875 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il10 interleukin 10 ISO RGD PMID:22462754 RGD:7364835 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il13 interleukin 13 ISO associated with Rhinosinusitis;protein:increased expression:serum RGD PMID:23969075 RGD:8549540 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il16 interleukin 16 ISO associated with Sinusitis RGD PMID:17431659 RGD:5024933 NCBI chr 1:145,781,923...145,881,538
Ensembl chr 1:145,781,928...145,870,912
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 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il5ra interleukin 5 receptor subunit alpha ISO protein:increased expression:nasal mucus, serum RGD PMID:12752323 RGD:5128621 NCBI chr 4:138,796,165...138,834,164
Ensembl chr 4:138,795,327...138,830,117
JBrowse link
G Il9 interleukin 9 ISO associated with Bronchial Hyperreactivity RGD PMID:15007348 RGD:5128694 NCBI chr17:8,558,827...8,561,950
Ensembl chr17:8,558,827...8,561,950
JBrowse link
G Itgal integrin subunit alpha L ISO protein:increased expression:nasal cavity epithelium RGD PMID:11593541 RGD:8547687 NCBI chr 1:198,744,053...198,781,745
Ensembl chr 1:198,744,050...198,781,750
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 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:inferior nasal concha: RGD PMID:12515274 RGD:8551781 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Kitlg KIT ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:15813808 NCBI chr 7:42,269,784...42,351,054
Ensembl chr 7:42,269,784...42,351,054
JBrowse link
G Lepr leptin receptor ISO mRNA:increased expression:nose RGD PMID:20422702 RGD:5129163 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Mbl2 mannose binding lectin 2 ISO associated with Sinusitis; protein:increased secretion:serum (human) RGD PMID:19593977 RGD:4889484 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa RGD PMID:23064462 RGD:8549735 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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 chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO RGD PMID:15715404 RGD:7364740 NCBI chr 1:214,725,482...214,756,653 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 chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:nasal mucosa (human) RGD PMID:15942806 RGD:7771559 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO associated with Sinusitis RGD PMID:21711960 RGD:6483796 NCBI chr 1:81,328,171...81,344,954
Ensembl chr 1:81,328,183...81,344,708
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:23238704 RGD:8547666 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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 chr10:82,800,704...82,816,735
Ensembl chr10:82,800,704...82,816,731
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 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO associated with Cystic Fibrosis; protein:increased expression:nasal mucosa: RGD PMID:16517580 RGD:5143924 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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 chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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
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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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 chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO associated with Rhinosinusitis;mRNA,protein:decreased expression:nasal mucosa: RGD PMID:23921602 RGD:8547534 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Sod3 superoxide dismutase 3 ISO mRNA, protein:increased expression:middle nasal turbinate, lamella (human) RGD PMID:16540901 RGD:1581230 NCBI chr14:60,958,583...60,971,143
Ensembl chr14:60,958,592...60,964,324
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:22959364 RGD:8694314 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO associated with Rhinosinusitis;mRNA,protein:increased expression: RGD PMID:23157229 RGD:7800741 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr7 toll-like receptor 7 ISO associated with Rhinosinusitis;mRNA,protein:increased expression: RGD PMID:23157229 RGD:7800741 NCBI chr  X:28,486,836...28,513,004
Ensembl chr  X:28,486,869...28,512,957
JBrowse link
G Tnc tenascin C ISO protein:increased expression:nasal cavity epithelium RGD PMID:12916355 RGD:4889591 NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNPs:promoter: RGD PMID:17638785 RGD:4142855 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO mRNA:decreased expression:nasal polyp (human) RGD PMID:19095579 RGD:5131442 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO mRNA:decreased expression:nasal polyp (human) RGD PMID:19095579 RGD:5131442 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:Turbinates: RGD PMID:12761968 RGD:7394830 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:15924153 NCBI chr 9:65,534,608...65,586,395
Ensembl chr 9:65,534,704...65,587,251
JBrowse link
G Fas Fas cell surface death receptor ISO DNA:insertion, deletions:cds:multiple (human) RGD PMID:12466128 RGD:8662407 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22705984, PMID:23689514 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29200404 NCBI chr10:88,686,207...88,712,313
Ensembl chr10:88,686,207...88,754,829
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 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Ctps1 CTP synthase 1 ISO mRNA:increased expression:nasopharynx (human) RGD PMID:19302751 RGD:5132859 NCBI chr 5:139,475,934...139,505,065
Ensembl chr 5:139,475,934...139,505,065
JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17032313 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21786012 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:17525745, PMID:18552176, PMID:22238366, PMID:23002168, PMID:23908597, PMID:25157968, PMID:26619011 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:11150980, PMID:12210337, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16835863, PMID:16881968, PMID:16969868, PMID:17054105, PMID:17250658, PMID:17412879, PMID:17979197, PMID:18039947, PMID:18247425, PMID:18470943, PMID:18978862, PMID:19206176, PMID:19371735, PMID:19382114, PMID:19669404, PMID:20660566, PMID:20979192, PMID:21834037, PMID:21850009, PMID:22087699, PMID:22317973, PMID:22499344, PMID:22683711, PMID:22926243, PMID:23751039, PMID:24033266, PMID:24129065, PMID:24169525, PMID:24224811, PMID:25157968, PMID:25741868, PMID:25914166, PMID:26619011, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28139825, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:31775759 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:11150980, PMID:12210337, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16835863, PMID:16881968, PMID:16969868, PMID:17054105, PMID:17250658, PMID:17412879, PMID:17979197, PMID:18039947, PMID:18247425, PMID:18470943, PMID:18978862, PMID:19206176, PMID:19371735, PMID:19382114, PMID:19669404, PMID:20660566, PMID:20979192, PMID:21834037, PMID:21850009, PMID:22087699, PMID:22317973, PMID:22499344, PMID:22683711, PMID:22926243, PMID:23751039, PMID:24033266, PMID:24129065, PMID:24169525, PMID:24224811, PMID:25157968, PMID:25741868, PMID:25914166, PMID:26619011, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28139825, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:31775759 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:20512145 NCBI chr 2:117,396,084...117,993,604
Ensembl chr 2:117,396,007...117,454,769
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17607721 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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, PMID:8120410, PMID:10821536, PMID:12460918, PMID:12727991, PMID:14508525, PMID:15899789, PMID:16273091, PMID:16291983, PMID:16434492, PMID:17699718, PMID:18390968, PMID:18633438, PMID:18668139, PMID:18948947, PMID:19075190, PMID:19657110, PMID:19880792, PMID:20130576, PMID:20149136, PMID:20179705, PMID:20406486, PMID:20619739, PMID:20736745, PMID:21107323, PMID:21305640, PMID:21576590, PMID:21729679, PMID:21829508, PMID:22407852, PMID:22499344, PMID:22718121, PMID:22761467, PMID:22773810, PMID:23076151, PMID:23392294, PMID:23400451, PMID:23414587, PMID:23515407, PMID:23538902, PMID:23569304, PMID:23614898, PMID:24006476, PMID:24033266, PMID:24148783, PMID:24370118, PMID:24671188, PMID:25157968, PMID:25348872, PMID:25695684, PMID:26619011, PMID:26821351, PMID:27050078, PMID:28492532, PMID:28780248 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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, PMID:15805248, PMID:16906227, PMID:16930767, PMID:17673550, PMID:18676830, PMID:18725974, PMID:19029981, PMID:19223544, PMID:19366826, PMID:19513541, PMID:19903786, PMID:20453058, PMID:20619739, PMID:21430269, PMID:22162582, PMID:22162589, PMID:22271473, PMID:22729223, PMID:22729224, PMID:23066039, PMID:23408298, PMID:23888070, PMID:24033266, PMID:24265155, PMID:25157968, PMID:25741868, PMID:26619011 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Rassf2 Ras association domain family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17013896 NCBI chr 3:124,574,088...124,610,267
Ensembl chr 3:124,575,621...124,610,267
JBrowse link
G Tnfrsf19 TNF receptor superfamily member 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20512145 NCBI chr15:41,249,820...41,316,203
Ensembl chr15:41,246,308...41,338,284
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:1631151, PMID:7707106, PMID:8023157, PMID:8062826, PMID:8080050, PMID:8164043, PMID:8825920, PMID:8869100, PMID:9546439, PMID:9632751, PMID:10589545, PMID:10914716, PMID:11370630, PMID:11920788, PMID:12007217, PMID:12124823, PMID:12826609, PMID:15607980, PMID:15607981, PMID:15825182, PMID:16288208, PMID:16401470, PMID:16494995, PMID:16736287, PMID:17541742, PMID:17606709, PMID:18208484, PMID:19468865, PMID:19834951, PMID:20128691, PMID:20516128, PMID:20522432, PMID:21343334, PMID:21626334, PMID:21761402, PMID:22006311, PMID:22233476, PMID:22999923, PMID:23259501, PMID:23263379, PMID:23265383, PMID:23334668, PMID:23792586, PMID:24033266, PMID:24384472, PMID:24573247, PMID:24728327, PMID:25587027, PMID:25741868, PMID:25927356, PMID:26024390, PMID:26270727, PMID:26619011, PMID:28135145, PMID:28369373, PMID:28492532, PMID:28724667, PMID:28861920, PMID:29416011, PMID:29489754, PMID:29979965, PMID:31775759, PMID:15118671 RGD:1331525 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Wif1 Wnt inhibitory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17384664 NCBI chr 7:63,094,955...63,165,158
Ensembl chr 7:63,094,911...63,165,159
JBrowse link
nasopharynx carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2, apoptosis regulator disease_progression ISO protein:increased expression:epithelium of nasopharynx (human) RGD PMID:12099337 RGD:11526103 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:SNP: :rs2031920 (human) RGD PMID:26582733 RGD:11061495 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
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 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Kdm3a lysine demethylase 3A severity ISO protein:decreased expression:nasopharyngeal epithelium (human) RGD PMID:21541331 RGD:9590228 NCBI chr 4:99,503,160...99,547,315
Ensembl chr 4:99,503,176...99,546,905
JBrowse link
G Mir152 microRNA 152 ISO miRNA:decreased expression:nasopharynx RGD PMID:28000885 RGD:19165149 NCBI chr10:84,719,319...84,719,403
Ensembl chr10:84,719,319...84,719,403
JBrowse link
G Mst1r macrophage stimulating 1 receptor susceptibility ISO ClinVar Annotator: match by term: Nasopharyngeal carcinoma, susceptibility to, 3 ClinVar
OMIM
PMID:26951679 NCBI chr 8:116,686,601...116,700,132
Ensembl chr 8:116,686,601...116,700,132
JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming IEP RGD PMID:19068094 RGD:2325214 NCBI chr 1:214,778,459...214,811,237
Ensembl chr 1:214,778,496...214,810,720
JBrowse link
G Snrpd1 small nuclear ribonucleoprotein D1 polypeptide ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr18:1,866,066...1,876,613
Ensembl chr18:1,866,080...1,876,613
JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr13:50,252,707...50,258,951
Ensembl chr 8:129,371,556...129,371,973
JBrowse link
G Snrpf small nuclear ribonucleoprotein polypeptide F ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr 7:34,478,331...34,485,034
Ensembl chr 7:34,478,331...34,485,034
JBrowse link
G Snrpg small nuclear ribonucleoprotein polypeptide G ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr 4:118,167,267...118,174,846
Ensembl chr 4:118,167,294...118,174,842
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Nasopharyngeal carcinoma OMIM
ClinVar
PMID:1565143, PMID:1565144, PMID:1631151, PMID:1683921, PMID:7732013, PMID:7887414, PMID:8164043, PMID:8198984, PMID:8203469, PMID:8423216, PMID:8825920, PMID:9047394, PMID:9242456, PMID:9569050, PMID:9865903, PMID:10411893, PMID:10797439, PMID:10864200, PMID:11040944, PMID:11101847, PMID:11139324, PMID:11391594, PMID:11479205, PMID:11782540, PMID:12007217, PMID:12619118, PMID:12672316, PMID:12826609, PMID:15004724, PMID:15173255, PMID:15381368, PMID:15390294, PMID:15580553, PMID:15607980, PMID:15607981, PMID:15951970, PMID:15977174, PMID:16401470, PMID:16489069, PMID:16682957, PMID:16818505, PMID:17224268, PMID:17289876, PMID:17540308, PMID:17606709, PMID:17636407, PMID:17727479, PMID:18391940, PMID:18511570, PMID:19127115, PMID:19367569, PMID:19556618, PMID:19881536, PMID:20113312, PMID:20128691, PMID:20407015, PMID:20516128, PMID:20689556, PMID:20693561, PMID:21187651, PMID:21232794, PMID:21305319, PMID:21343334, PMID:21484931, PMID:21512767, PMID:21519010, PMID:21552135, PMID:21601526, PMID:21761402, PMID:22006311, PMID:22110706, PMID:22186996, PMID:22233476, PMID:22652532, PMID:22698404, PMID:22710932, PMID:22811390, PMID:22899716, PMID:22915647, PMID:22999923, PMID:23161690, PMID:23246812, PMID:23263379, PMID:23484829, PMID:23538418, PMID:23792586, PMID:23894400, PMID:24033266, PMID:24381225, PMID:24487413, PMID:24501221, PMID:24573247, PMID:24641375, PMID:24651012, PMID:24677579, PMID:24728327, PMID:24810334, PMID:24868540, PMID:25157968, PMID:25527155, PMID:25584008, PMID:25741868, PMID:25787918, PMID:25927356, PMID:25952993, PMID:26086041, PMID:26230955, PMID:26467025, PMID:26585234, PMID:26619011, PMID:26681312, PMID:26822237, PMID:26845104, PMID:27153395, PMID:27276561, PMID:27374712, PMID:27463065, PMID:27516001, PMID:27680515, PMID:27683180, PMID:27895058, PMID:27959731, PMID:28125078, PMID:28135145, PMID:28349240, PMID:28369373, PMID:28453743, PMID:28492532, PMID:28772286, PMID:28861920, PMID:29478780, PMID:29489754, PMID:29945567, PMID:30076369, PMID:30224644, PMID:30287823, PMID:30327374, PMID:30374176, PMID:30883245, PMID:31016814, PMID:31159747, PMID:31775759, PMID:9929165 RGD:8547825 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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 chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857
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 1:201,620,642...201,689,905
NCBI chr 1:203,149,414...203,228,705
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16178123 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Anxa2 annexin A2 disease_progression ISO RGD PMID:20970165 RGD:7421559 NCBI chr 8:75,687,134...75,723,589
Ensembl chr 8:75,687,100...75,723,594
JBrowse link
G Tp53 tumor protein p53 treatment ISO DNA:mutations:cds: RGD PMID:22575263, PMID:23369851 RGD:8547763, RGD:8547764 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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 chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19389874 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO protein:increased expression:nasal turbinate RGD PMID:19364335 RGD:5147461 NCBI chr12:6,854,930...6,879,112
Ensembl chr12:6,854,920...6,879,154
JBrowse link
G Cat catalase ISO protein:decreased expression:plasma RGD PMID:20493834 RGD:5130771 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:nasal turbinate, mucosa (human) RGD PMID:9865755 RGD:8548839 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:Nasal Mucosa RGD PMID:17982926 RGD:4145109
G Ccr5 C-C motif chemokine receptor 5 ISO mRNA:increased expression:nasal mucosa (human) RGD PMID:17982926 RGD:4145109 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20226305 RGD:5132269 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd86 CD86 molecule ISO protein:increased expression:nasal mucosa, dendritic cell (human) RGD PMID:17088138 RGD:4892343 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Chia chitinase, acidic ISO mRNA, protein:increased expression:turbinate, mucosa (human) RGD PMID:20422678 RGD:5037226 NCBI chr 2:208,750,348...208,797,388
Ensembl chr 2:208,749,996...208,797,402
JBrowse link
G Egr1 early growth response 1 ISO DNA:snp:5' utr:g.-4071A>G rs7729723 (human) RGD PMID:19833116 RGD:5131984 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G F2rl1 F2R like trypsin receptor 1 ISO RGD PMID:17727088 RGD:4892590 NCBI chr 2:25,222,324...25,235,275
Ensembl chr 2:25,222,328...25,235,275
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 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA, protein:increased expression: nasal mucosa RGD PMID:16540907 RGD:4145406 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO DNA: SNP: Leu467Pro RGD PMID:12851715 RGD:6480431 NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
JBrowse link
G Il13 interleukin 13 ISO mRNA, protein:increased expression:nasal mucosa RGD PMID:8520776 RGD:4782826 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il17a interleukin 17A severity ISO protein:increased expression:serum RGD PMID:19226302 RGD:4889151 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNP:promoter:c. -607A>C (rs1946518) (human) RGD PMID:16406079 RGD:4889924 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:polymorphism:exon:c.4845G>T (human) RGD PMID:14533660 RGD:4142859 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO RGD PMID:18637763 RGD:5037238 NCBI chr 9:46,962,291...47,038,139
Ensembl chr 9:46,962,288...47,036,670
JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:serum: RGD PMID:17608155 RGD:8662959 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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 chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il5 interleukin 5 ISO protein: increased levels: sputum RGD PMID:22186238 RGD:5687140 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:nasal mucosa: RGD PMID:19786210 RGD:5130872 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:nasal mucosa: RGD PMID:19786210 RGD:5130872 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:nasal mucosa RGD PMID:14587983 RGD:4892078 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 ISO DNA:snp:promoter:g.-786T>C (human) RGD PMID:18086269 RGD:4892054 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO protein:altered expression:nasal mucosa RGD PMID:20185258 RGD:4892593 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO mRNA, protein:increased expression:nasal mucosa (human) RGD PMID:17116814 RGD:8552811 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO protein:increased expression:respiratory system epithelium RGD PMID:19364335 RGD:5147461 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
JBrowse link
G Tbxa2r thromboxane A2 receptor treatment ISO RGD PMID:15247523 RGD:11059532 NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
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
ClinVar Annotator: match by OMIM:614369
OMIM
ClinVar
PMID:21480433, PMID:23806086, PMID:24088041, PMID:25741868, PMID:26257172, PMID:26752647, PMID:28492532 NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
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 3:123,595,018...123,607,549
Ensembl chr 3:123,595,560...123,607,352
JBrowse link
G Ang angiogenin ISO protein:increased expression:sputum RGD PMID:19178538 RGD:6892723 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO RGD PMID:12165532 RGD:5129220 NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO RGD PMID:1890650, PMID:11149999 RGD:4891044, RGD:4891033 NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
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 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
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 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C3ar1 complement C3a receptor 1 severity ISO protein:increased expression:nasal cavity RGD PMID:18538384 RGD:5129559 NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
JBrowse link
G C5ar1 complement C5a receptor 1 ISO RGD PMID:18538384 RGD:5129559 NCBI chr 1:78,186,777...78,195,132
Ensembl chr 1:78,186,776...78,195,328
JBrowse link
G Casp1 caspase 1 ISO protein:increased expression:serum RGD PMID:12396474, PMID:20974310 RGD:5130192, RGD:5130187 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Cat catalase treatment ISO protein:increased activity:blood,nasal cavity mucosa: RGD PMID:21541033 RGD:9479054 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl1 C-C motif chemokine ligand 1 ISO mRNA:increased expression:nasal cavity epithelium RGD PMID:17982926 RGD:4145109 NCBI chr10:69,534,976...69,537,836
Ensembl chr10:69,534,933...69,537,882
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 chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO protein:increased expression:blood, mononuclear cell RGD PMID:17517104 RGD:4145498 NCBI chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO RGD PMID:17947663 RGD:5130909 NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO protein:increased expression:blood, mononuclear cell RGD PMID:17517104 RGD:4145498 NCBI chr19:10,674,189...10,681,145
Ensembl chr19:10,674,189...10,681,145
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 chr12:24,131,529...24,152,626
Ensembl chr12:24,148,567...24,152,625
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 chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO RGD PMID:19786211 RGD:5130914 NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO RGD PMID:17982926 RGD:4145109 NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
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
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 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
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 chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cd28 Cd28 molecule ISO RGD PMID:21356099 RGD:5131612 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Cd80 Cd80 molecule ISO RGD PMID:21108691 RGD:5132622 NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
JBrowse link
G Cdc42 cell division cycle 42 ISO mRNA:increased expression:nasal turbinate RGD PMID:19432938 RGD:5688273 NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16083808 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO mRNA, protein:increased expression:nasal cavity epithelium RGD PMID:17597629 RGD:5130940 NCBI chr10:92,191,473...92,233,662
Ensembl chr10:92,191,718...92,232,645
JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 ISO mRNA, protein:increased expression:nasal cavity epithelium RGD PMID:17597629 RGD:5130940 NCBI chr 4:85,286,371...85,329,374
Ensembl chr 4:85,286,372...85,329,362
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO protein:increased expression:T cell RGD PMID:17625281 RGD:4891512 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:plasma RGD PMID:14657873 RGD:4891906 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO protein:increased expression:nasal mucus RGD PMID:20659080 RGD:4892030 NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
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 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
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:77,671,028...77,700,491
Ensembl chr  X:77,674,150...77,700,269
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium RGD PMID:16689996 RGD:4783198 NCBI chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
JBrowse link
G Fcer1a Fc fragment of IgE receptor Ia ISO RGD PMID:20650300 RGD:5128714 NCBI chr13:91,727,253...91,737,106
Ensembl chr13:91,730,925...91,737,053
JBrowse link
G Fis1 fission, mitochondrial 1 IEP mRNA, protein:increased expression:nasal cavity mucosa (rat) RGD PMID:28146064 RGD:13204839 NCBI chr12:22,750,485...22,765,324
Ensembl chr12:22,750,485...22,765,308
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 3:119,057,524...119,075,599
Ensembl chr 3:119,057,517...119,075,619
JBrowse link
G Hnmt histamine N-methyltransferase no_association ISO CTD Direct Evidence: marker/mechanism CTD PMID:17651147, PMID:17651147 RGD:5128885 NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
JBrowse link
G Hrh1 histamine receptor H 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12167471 NCBI chr 4:146,374,596...146,458,148
Ensembl chr 4:146,455,332...146,457,074
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 chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO RGD PMID:17088137 RGD:4159171 NCBI chr  X:118,443,955...118,514,716
Ensembl chr  X:118,443,823...118,513,061
JBrowse link
G Il15 interleukin 15 ISO RGD PMID:16750998 RGD:5000756 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
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 1:145,781,923...145,881,538
Ensembl chr 1:145,781,928...145,870,912
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:nasal mucosa RGD PMID:20506642, PMID:19927541 RGD:4889137, RGD:4889144 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:SNP:promoter:rs2069762(human) RGD PMID:16333313 RGD:8663473 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il21 interleukin 21 ISO RGD PMID:17982108 RGD:5147397 NCBI chr 2:123,965,021...123,972,356
Ensembl chr 2:123,965,021...123,972,356
JBrowse link
G Il22 interleukin 22 severity ISO mRNA:increased expression:blood, mononuclear cell RGD PMID:21535180 RGD:5147409 NCBI chr 7:61,236,037...61,240,502
Ensembl chr 7:61,236,037...61,240,502
JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNP,haplotype: :rs7517847(human) RGD PMID:23696856 RGD:8549605 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il27ra interleukin 27 receptor subunit alpha ISO RGD PMID:19354069 RGD:5128480 NCBI chr19:25,151,835...25,163,995
Ensembl chr19:25,149,897...25,164,086
JBrowse link
G Il4 interleukin 4 ISO
IEP
mRNA:increased expression:nasal cavity epithelium
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
CTD PMID:19672097, PMID:21208219, PMID:18826099 RGD:5128558, RGD:2317285 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il4r interleukin 4 receptor ISO DNA:polymorphism: :c.1432T>C (human) RGD PMID:15564773 RGD:4890394 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Il5 interleukin 5 ISO RGD PMID:11884474 RGD:5128622 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Il9 interleukin 9 ISO RGD PMID:20525149 RGD:5128687 NCBI chr17:8,558,827...8,561,950
Ensembl chr17:8,558,827...8,561,950
JBrowse link
G Lep leptin ISO RGD PMID:19860581 RGD:5128850 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism: : RGD PMID:18831943 RGD:8693717 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mfn1 mitofusin 1 IEP mRNA, protein:increased expression:nasal cavity mucosa (rat) RGD PMID:28146064 RGD:13204839 NCBI chr 2:118,929,738...118,971,689
Ensembl chr 2:118,929,738...118,973,698
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 chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Ms4a2 membrane spanning 4-domains A2 ISO RGD PMID:15480314 RGD:5131152 NCBI chr 1:227,957,363...227,965,312
Ensembl chr 1:227,957,302...227,965,386
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 1:214,725,482...214,756,653 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 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Ngfr nerve growth factor receptor ISO protein:increased expression:blood, eosinophil RGD PMID:18647313 RGD:5144116 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Nod1 nucleotide-binding oligomerization domain containing 1 ISO mRNA:decreased expression:nose RGD PMID:20384614 RGD:5131446 NCBI chr 4:85,123,965...85,175,206
Ensembl chr 4:85,123,960...85,174,951
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 chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:nasal mucosa RGD PMID:18254476 RGD:4891910 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Npy neuropeptide Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:12746121 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO protein:increased expression:eosinophil RGD PMID:18647313 RGD:5144116 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase IEP mRNA, protein:increased expression:nasal cavity mucosa (rat) RGD PMID:28146064 RGD:13204839 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Plau plasminogen activator, urokinase ISO mRNA:increased expression:nasal cavity epithelium RGD PMID:21339035 RGD:8547809 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Ptgdr2 prostaglandin D2 receptor 2 ISO RGD PMID:19230460, PMID:19608418 RGD:5135021, RGD:5135017 NCBI chr 1:226,976,455...226,995,641
Ensembl chr 1:226,993,250...226,994,849
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 chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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 chr18:38,292,822...38,295,744
Ensembl chr18:38,292,701...38,295,831
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:19063817 RGD:4144832 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Sftpd surfactant protein D susceptibility ISO associated with Hypersensitivity;DNA:polymorphism: :p.M11T (human) RGD PMID:19493231 RGD:4143494 NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
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 chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
JBrowse link
G Tbxa2r thromboxane A2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12167471 NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO associated with Sinusitis RGD PMID:18423831 RGD:4145277 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr6 toll-like receptor 6 ISO associated with Asthma;DNA:SNP: :rs2381289 (human) RGD PMID:20815312 RGD:4145352 NCBI chr14:45,024,351...45,041,188
Ensembl chr14:45,024,351...45,046,446
JBrowse link
G Tnf tumor necrosis factor ISO
IEP
mRNA:increased expression:nose RGD PMID:15120189, PMID:20696593 RGD:4143470, RGD:4145454 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:sputum RGD PMID:19178538 RGD:6892723 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vip vasoactive intestinal peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:12746121, PMID:14680090 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
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 chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:haplotype: : RGD PMID:17321882 RGD:8547664 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G C3 complement C3 ISO protein:increased expression:serum RGD PMID:19593977 RGD:4889484 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C4a complement C4A disease_progression ISO DNA:deletion: : RGD PMID:16879240 RGD:5688262 NCBI chr20:2,651,599...2,678,183
Ensembl chr20:2,651,599...2,678,141
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO RGD PMID:16702571 RGD:7483585 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Hgf hepatocyte growth factor susceptibility ISO DNA:haplotype::rs38850,rs38855,rs38857(human) RGD PMID:20416453 RGD:8548615 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA:increased expression:nose: RGD PMID:20713758 RGD:8548883 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il10 interleukin 10 ISO protein:decreased expression:blood, mononuclear cell RGD PMID:23168151 RGD:7364820 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il17a interleukin 17A ISO associated with Asthma;mRNA, protein:increased expression:nasal polyps (human) RGD PMID:19672092 RGD:4889146 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:nasal cavity epithelium RGD PMID:11197112 RGD:7401169 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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 5:154,078,093...154,102,903
Ensembl chr 5:154,077,944...154,106,433
JBrowse link
G Il4 interleukin 4 treatment ISO associated with Asthma RGD PMID:12787306 RGD:7829803 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:23401274 RGD:8547880 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming treatment IDA RGD PMID:23131200, PMID:19389874 RGD:7349403, RGD:7364734 NCBI chr 1:214,725,482...214,756,653 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 3:63,489,081...63,507,918
Ensembl chr 3:63,489,074...63,507,926
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:nasal mucosa (human) RGD PMID:21711960 RGD:6483796 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:paranasal sinus RGD PMID:22182736 RGD:7800733 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:nasal cavity epithelium RGD PMID:11197112, PMID:20147558 RGD:7401169, RGD:7401236 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Apoa4 apolipoprotein A4 resistance ISO protein:increased expression:blood serum (human) RGD PMID:20810159 RGD:5685642 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Bdnf brain-derived neurotrophic factor severity ISO protein:increased expression:blood, nasal cavity epithelium RGD PMID:18266897 RGD:5144117 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased expression:inferior turbinate, epithelium (human) RGD PMID:20459697 RGD:4891379 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Cma1 chymase 1 ISO protein:increased expression:nasal mucosa, mast cell (human) RGD PMID:11549546 RGD:5128839 NCBI chr15:34,601,037...34,603,819
Ensembl chr15:34,601,037...34,603,819
JBrowse link
G Fga fibrinogen alpha chain ISO RGD PMID:21887273 RGD:5688767 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Gsto1 glutathione S-transferase omega 1 ISO protein:decreased expression;T lymphocyte: RGD PMID:21410266 RGD:5491008 NCBI chr 1:267,607,437...267,617,387
Ensembl chr 1:267,607,418...267,617,387
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased secretion:nasopharynx, secretion (human) RGD PMID:20128420 RGD:4145459 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO DNA: SNP: Leu467Pro RGD PMID:12851715 RGD:6480431 NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:19505388 RGD:7365025 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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 chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:nasal cavity of mucosa: RGD PMID:17651148 RGD:8551771 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Mc1r melanocortin 1 receptor no_association ISO RGD PMID:20357480 RGD:5687317 NCBI chr19:56,215,420...56,219,987 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 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nod1 nucleotide-binding oligomerization domain containing 1 susceptibility ISO DNA:SNP: :rs2075817 (human) RGD PMID:16918516 RGD:5131519 NCBI chr 4:85,123,965...85,175,206
Ensembl chr 4:85,123,960...85,174,951
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 chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO protein:increased expression:respiratory system epithelium RGD PMID:19364335 RGD:5147461 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO mRNA, protein:decreased expression:nasal lavage fluid RGD PMID:15836756 RGD:5144234 NCBI chr 1:225,279,698...225,283,246
Ensembl chr 1:225,279,676...225,283,326
JBrowse link
G Tlr3 toll-like receptor 3 ISO protein:decreased expression:bone marrow, blood, eosinophil (human) RGD PMID:19752565 RGD:5129130 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphisms:cds:p.D299G, T399I (human) RGD PMID:18517079 RGD:4144192 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 2:140,734,138...141,276,886 JBrowse link
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859338 NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
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 chr12:19,196,565...19,203,094
Ensembl chr12:19,196,611...19,202,647
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO RGD PMID:19786211 RGD:5130914 NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
JBrowse link
G Cfb complement factor B ISO protein:decreased expression:serum RGD PMID:14510109 RGD:7411729 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cftr CF transmembrane conductance regulator susceptibility ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism
CTD PMID:16083808, PMID:11773581 RGD:4140477 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Chia chitinase, acidic severity ISO mRNA:decreased expression:sinus, epithelial cell (human) RGD PMID:19379605 RGD:5037227 NCBI chr 2:208,750,348...208,797,388
Ensembl chr 2:208,749,996...208,797,402
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 chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
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 PMID:20358028, PMID:20358028 RGD:4145767 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il1b interleukin 1 beta ISO associated with Hypersensitivity RGD PMID:16358839 RGD:4143214 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:11758471 RGD:8662964 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Lta lymphotoxin alpha susceptibility ISO DNA:polymorphism: : RGD PMID:11037831 RGD:4143260 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18391768 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:: RGD PMID:20392482 RGD:5130763 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO protein:increased secretion:sinus mucus RGD PMID:17063754 RGD:5131192 NCBI chr 1:214,778,459...214,811,237
Ensembl chr 1:214,778,496...214,810,720
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO RGD PMID:18396779 RGD:4892328 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein: increased expression: nasal cavity epithelium RGD PMID:21255638 RGD:6483060 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pip prolactin induced protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18391768 NCBI chr 4:71,320,859...71,325,153
Ensembl chr 4:71,320,859...71,325,153
JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:21711960 RGD:6483796 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO RGD PMID:21711960 RGD:6483796 NCBI chr 1:81,328,171...81,344,954
Ensembl chr 1:81,328,183...81,344,708
JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18391768 NCBI chr10:82,800,704...82,816,735
Ensembl chr10:82,800,704...82,816,731
JBrowse link
G Scgb3a2 secretoglobin, family 3A, member 2 ISO mRNA,protein:decreased expression:nasal mucosa RGD PMID:21385388 RGD:5147389 NCBI chr18:38,292,822...38,295,744
Ensembl chr18:38,292,701...38,295,831
JBrowse link
G Sftpa1 surfactant protein A1 ISO associated with Cystic Fibrosis;mRNA:increased expression:respiratory system mucosa RGD PMID:17599561 RGD:4143506 NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Sftpd surfactant protein D ISO associated with Cystic Fibrosis;mRNA:increased expression:respiratory system mucosa RGD PMID:17599561 RGD:4143506 NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:nasal cavity epithelium: RGD PMID:14743629 RGD:8552991 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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 chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
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: Autosomal dominant torsion dystonia 4 OMIM
ClinVar
PMID:3156966, PMID:3405308, PMID:7983175, PMID:16707859, PMID:18466252, PMID:18851904, PMID:23424103, PMID:23582646, PMID:23595291, PMID:24526230, PMID:24706558, PMID:24785942, PMID:24850488, PMID:25085639, PMID:25326635, PMID:25545912, PMID:25741868, PMID:28492532, PMID:28973395, PMID:30079973 NCBI chr 9:9,961,020...9,968,420
Ensembl chr 9:9,961,021...9,968,486
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 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
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 chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
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 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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 chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496
JBrowse link
G Amer3 APC membrane recruitment protein 3 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 9:41,089,417...41,101,108
Ensembl chr 9:41,096,835...41,099,189
JBrowse link
G Ap1g2 adaptor related protein complex 1 subunit gamma 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr15:33,759,108...33,767,017
Ensembl chr15:33,759,001...33,766,438
JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 7:12,258,468...12,280,459
Ensembl chr 7:12,258,468...12,275,609
JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP RGD PMID:16818050 RGD:2289003 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:8673090, PMID:9150172, PMID:9667259, PMID:9792861, PMID:11307153, PMID:15131399, PMID:15382066, PMID:16683254, PMID:17148771, PMID:19863560, PMID:20694749, PMID:21324516, PMID:23199084, PMID:23318356, PMID:23621881, PMID:24033266, PMID:25741868, PMID:26295337, PMID:26467025, PMID:28008555, PMID:28492532 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:16116421, PMID:16116423, PMID:16116424, PMID:16153896, PMID:17033622, PMID:19127258, PMID:19763819, PMID:20177395, PMID:20639400, PMID:21165771, PMID:21345144, PMID:21964575, PMID:22006311, PMID:24240112, PMID:24556621, PMID:25741868, PMID:25980754, PMID:26315354, PMID:26467025, PMID:26681312, PMID:26822949, PMID:26845104, PMID:26921362, PMID:26968956, PMID:27179029, PMID:28492532, PMID:29368626 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
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 2:211,183,410...211,207,458
Ensembl chr 2:211,183,311...211,207,465
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr10:90,932,071...90,983,971
Ensembl chr10:90,932,075...90,983,928
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 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr11:31,780,477...31,805,728
Ensembl chr11:31,780,487...31,805,728
JBrowse link
G Glmn glomulin, FKBP associated protein ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:30311386 NCBI chr14:3,204,390...3,247,703
Ensembl chr14:3,204,390...3,247,695
JBrowse link
G Gls glutaminase ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 9:54,212,622...54,284,879
Ensembl chr 9:54,212,767...54,284,872
JBrowse link
G Gtf3c1 general transcription factor IIIC subunit 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 1:197,032,473...197,098,676
Ensembl chr 1:197,032,474...197,098,649
JBrowse link
G Irf8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr19:54,314,859...54,336,643
Ensembl chr19:54,314,865...54,336,640
JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr11:31,943,119...32,069,249
Ensembl chr11:31,893,489...32,069,249
JBrowse link
G Klhl17 kelch-like family member 17 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 5:173,654,238...173,659,706
Ensembl chr 5:173,654,860...173,659,675
JBrowse link
G Lurap1l leucine rich adaptor protein 1-like ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 5:98,468,039...98,515,126
Ensembl chr 5:98,469,047...98,515,125
JBrowse link
G Pcdh1 protocadherin 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr18:31,330,081...31,343,147
Ensembl chr18:31,328,919...31,343,797
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
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 4:173,732,196...174,102,502
Ensembl chr 4:173,732,248...174,102,496
JBrowse link
G Polr2b RNA polymerase II subunit B ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr14:33,070,104...33,107,792
Ensembl chr14:33,070,078...33,107,776
JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr13:108,689,916...108,841,593
Ensembl chr13:108,696,336...108,841,511
JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
JBrowse link
G Tecpr1 tectonin beta-propeller repeat containing 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr12:12,374,132...12,403,382
Ensembl chr12:12,374,790...12,402,552
JBrowse link
G Tlr9 toll-like receptor 9 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr14:9,169,409...9,384,835
Ensembl chr14:9,141,512...9,381,870
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 chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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 2 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 5:159,735,008...159,735,956
Ensembl chr 5:159,734,838...159,742,774
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581
JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25754594 NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317
JBrowse link
G Fn1 fibronectin 1 IEP protein:increased expression:embryo RGD PMID:14986037 RGD:7205466 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:2629409, PMID:26294094 NCBI chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086
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 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
G Ift172 intraflagellar transport 172 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25741868 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:p.C470R(mouse)
CTD PMID:18519639, PMID:18519639 RGD:11556208 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
JBrowse link
G Qsox1 quiescin sulfhydryl oxidase 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr13:73,423,396...73,460,890
Ensembl chr13:73,423,397...73,460,935
JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:12632369 RGD:12801426 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr20:37,463,879...37,701,268
Ensembl chr20:37,465,278...37,700,937
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 6:75,793,223...75,873,854
Ensembl chr 6:75,793,960...75,874,235
JBrowse link
G Fancb FA complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
CTD
ClinVar
PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr  X:31,124,018...31,140,790
Ensembl chr  X:31,124,018...31,140,711
JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked ClinVar PMID:25754594 NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317
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:9399897, PMID:9467011, PMID:10232405, PMID:10353779, PMID:10400993, PMID:10468583, PMID:10749983, PMID:10848731, PMID:11238682, PMID:11685670, PMID:11748304, PMID:12844284, PMID:14518070, PMID:15805158, PMID:17286265, PMID:17392703, PMID:17427195, PMID:17942903, PMID:19265751, PMID:19668082, PMID:21194675, PMID:21828076, PMID:21956414, PMID:22252256, PMID:22381246, PMID:23442912, PMID:23470840, PMID:23475934, PMID:23695273, PMID:24033266, PMID:24052722, PMID:24136893, PMID:24778394, PMID:25022750, PMID:25132236, PMID:25157968, PMID:25326635, PMID:25669429, PMID:25741868, PMID:25756585, PMID:27477328, PMID:27535533, PMID:28492532, PMID:28526761, PMID:30287823, PMID:32238909 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr19:23,387,737...23,405,025
Ensembl chr19:23,389,375...23,405,039
JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked
ClinVar Annotator: match by OMIM:314390
OMIM
ClinVar
PMID:2629409, PMID:14681828, PMID:17764085, PMID:23427188, PMID:24033266, PMID:24123890, PMID:25741868, PMID:26294094, PMID:28492532 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      respiratory system disease 2748
        upper respiratory tract disease 366
          acute laryngopharyngitis 0
          adenoid hypertrophy 0
          adenoiditis 1
          common cold 16
          epiglottitis 0
          laryngeal disease + 67
          laryngotracheitis 0
          leprosy + 21
          mucocutaneous leishmaniasis 3
          nasopharyngeal disease + 27
          nose disease + 222
          pharyngitis + 1
          scarlet fever 0
          tonsillitis + 1
          tracheal disease + 53
          uvulitis 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.