RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | upper respiratory tract disease |
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Accession: | DOID:974
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browse the term
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Definition: | A respiratory system disease which involves the upper respiratory tract. (DO) |
Synonyms: | exact_synonym: | upper respiratory tract disorder |
| xref: | ICD9CM:478.19; MONDO:0004867 |
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Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Chronic adenoiditis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Abcb1a |
ATP binding cassette subfamily B member 1A |
severity |
ISO |
DNA:snp:exon:c.1236C>T (human) |
RGD |
PMID:24040855 |
RGD:8657076 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Ace |
angiotensin I converting enzyme |
no_association |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:15112973 |
RGD:8142345 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Bcl2 |
BCL2, apoptosis regulator |
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IEP |
mRNA, protein:increased expression:nasal mucosa (rat) |
RGD |
PMID:15362690 |
RGD:11522724 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Cat |
catalase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29028686 |
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NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccl11 |
C-C motif chemokine ligand 11 |
treatment |
IDA |
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RGD |
PMID:23089405 |
RGD:7248414 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Ccl26 |
C-C motif chemokine ligand 26 |
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ISO |
protein:increased expression:oronasal secretion (human) |
RGD |
PMID:23883806 |
RGD:7364793 |
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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Cd40 |
CD40 molecule |
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ISO |
protein:increased expression:lymphocyte |
RGD |
PMID:19086656 |
RGD:8547782 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg |
CD40 ligand |
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ISO |
protein:increased expression:lymphocyte |
RGD |
PMID:19086656 |
RGD:8547782 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cldn3 |
claudin 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33441633 |
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NCBI chr12:21,708,538...21,710,010
Ensembl chr12:21,708,398...21,711,001
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Cldn7 |
claudin 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33441633 |
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NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171
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Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
treatment |
ISO |
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RGD |
PMID:10436391 |
RGD:11344920 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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F2 |
coagulation factor II, thrombin |
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ISO |
protein:increased expression:nasal mucus |
RGD |
PMID:21711961 |
RGD:5147783 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Fcgr3a |
Fc gamma receptor 3A |
susceptibility |
ISO |
DNA:polymorphism:exon:p.F158V(rs396991)(human) |
RGD |
PMID:18199088 |
RGD:5508449 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Gria1 |
glutamate ionotropic receptor AMPA type subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34624383 |
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NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283
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Gria2 |
glutamate ionotropic receptor AMPA type subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34624383 |
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NCBI chr 2:165,949,379...166,069,510
Ensembl chr 2:165,947,521...166,069,510
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Hmox1 |
heme oxygenase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36127783 |
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NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hrh1 |
histamine receptor H 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23333628 |
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NCBI chr 4:147,564,963...147,649,353
Ensembl chr 4:147,645,995...147,647,455
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Ifng |
interferon gamma |
treatment |
ISO IDA |
associated with Asthma CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29871060 PMID:12787306 PMID:18510219 |
RGD:7829803, RGD:10755770 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10 |
interleukin 10 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:36127783 PMID:23883806 PMID:23253209 |
RGD:7364793, RGD:7364818 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il13 |
interleukin 13 |
susceptibility no_association |
ISO |
DNA:polymorphism:exon:c. 2044G>A (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.R130Q (rs20541) (human) DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) DNA:SNP:promoter:-1512A>C (rs1881457) (human) |
CTD OMIM RGD |
PMID:17091279 PMID:22852128 PMID:12928861 PMID:23996716 |
RGD:4152796, RGD:8549518, RGD:8549516, RGD:8549501 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il13ra2 |
interleukin 13 receptor subunit alpha 2 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21462799 |
RGD:8549521 |
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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Il17a |
interleukin 17A |
susceptibility |
ISO |
DNA:snp:promoter:c.-444A>G (human) mRNA:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:22507625 PMID:21535180 |
RGD:9068429, RGD:5147409 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il18 |
interleukin 18 |
severity no_association |
ISO |
DNA:SNP:promoter:-137G>C (rs187238) (human) DNA:SNP:promoter:-140C>G (rs360721) (human) |
RGD |
PMID:22840759 PMID:22840759 |
RGD:8655914, RGD:8655914 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b |
interleukin 1 beta |
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ISO |
protein:increased expression:nasal mucus |
RGD |
PMID:7750009 |
RGD:7401199 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il2 |
interleukin 2 |
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IEP |
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RGD |
PMID:12592663 |
RGD:8662963 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il4 |
interleukin 4 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:36127783 PMID:9893928 PMID:24620662 PMID:8908280 PMID:14653048 |
RGD:7829796, RGD:11522769, RGD:7829827, RGD:7829802 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il5 |
interleukin 5 |
treatment |
IEP |
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RGD |
PMID:23934070 PMID:24620662 |
RGD:11354976, RGD:11522769 |
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Itgb2 |
integrin subunit beta 2 |
treatment |
IEP |
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RGD |
PMID:12046991 |
RGD:9698435 |
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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Mrc1 |
mannose receptor, C type 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36127783 |
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NCBI chr17:77,249,187...77,330,857
Ensembl chr17:77,249,187...77,330,857
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Muc1 |
mucin 1, cell surface associated |
severity |
ISO IMP IEP |
mRNA,protein:decreased expression:nasal mucosa |
RGD |
PMID:31425778 PMID:31425778 PMID:31425778 |
RGD:127345100, RGD:127345100, RGD:127345100 |
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Muc1em1Cgen |
mucin 1, cell surface associated; TALEN induced mutant 1, Cgen |
severity |
IMP |
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RGD |
PMID:31425778 |
RGD:127345100 |
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Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
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IEP |
mRNA, protein:increased expression:nasal cavity epithelium |
RGD |
PMID:22972875 |
RGD:7364746 |
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Nod2 |
nucleotide-binding oligomerization domain containing 2 |
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ISO |
mRNA:increased expression:nasal mucosa (human) |
RGD |
PMID:23858718 |
RGD:8547523 |
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Ocln |
occludin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33441633 |
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NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
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Pon1 |
paraoxonase 1 |
severity |
ISO |
protein:decreased activity:plasma (human) |
RGD |
PMID:23406590 |
RGD:8547583 |
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Prkg1 |
protein kinase cGMP-dependent 1 |
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IEP |
protein:increased expression:nasal cavity epithelium |
RGD |
PMID:24012634 |
RGD:7775060 |
NCBI chr 1:228,409,605...229,638,794
Ensembl chr 1:228,408,947...229,639,080
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Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16979129 |
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NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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RT1-M3-1 |
RT1 class Ib, locus M3, gene 1 |
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ISO |
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RGD |
PMID:20487636 |
RGD:5144132 |
NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117
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Scgb1a1 |
secretoglobin family 1A member 1 |
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ISO |
mRNA:decreased expression:nasal mucosa, lung |
RGD |
PMID:17882576 |
RGD:5144135 |
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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Scgb3a2 |
secretoglobin, family 3A, member 2 |
susceptibility |
ISO |
DNA:SNP: :rs7726552 (human) |
RGD |
PMID:21410962 |
RGD:5144225 |
NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762
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Serpine1 |
serpin family E member 1 |
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ISO |
mRNA:increased expression:nasal mucosa (mouse) |
RGD |
PMID:21339035 |
RGD:8547809 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Tacr1 |
tachykinin receptor 1 |
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IEP |
mRNA:increased expression:nasal mucosa |
RGD |
PMID:12768696 |
RGD:5147835 |
NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
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Tgfb1 |
transforming growth factor, beta 1 |
treatment |
IEP |
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RGD |
PMID:31368266 |
RGD:14995445 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tlr2 |
toll-like receptor 2 |
severity |
ISO |
DNA:polymorphism:cds:p.R753Q(human) protein:increased expression:neutrophil: mRNA:decreased expression:nasal mucosa: |
RGD |
PMID:22402138 PMID:22555057 PMID:18381801 PMID:18219831 |
RGD:7800732, RGD:8552993, RGD:8552972, RGD:7800742 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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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 More...
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RGD:7800732, RGD:8552993, RGD:7800740, RGD:7800738, RGD:7800736, RGD:4145354 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr9 |
toll-like receptor 9 |
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ISO |
protein:decreased expression:nasal mucosa: |
RGD |
PMID:22577387 |
RGD:7800740 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Cyp2c6 |
cytochrome P450, family 2, subfamily C, polypeptide 6 |
treatment |
ISO |
associated with Eosinophilic Esophagitis; DNA:polymorphisms:: |
RGD |
PMID:26416193 |
RGD:11352743 |
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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Il3 |
interleukin 3 |
susceptibility |
ISO |
DNA:SNP: :rs40401(human) |
RGD |
PMID:23953855 |
RGD:13506915 |
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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Matr3 |
matrin 3 |
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ISO ISS |
OMIM:606070 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2 |
OMIM MouseDO CTD ClinVar |
PMID:9536098 PMID:9837826 PMID:17576681 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:28029397 PMID:28492532 PMID:29109432 PMID:30015619 PMID:30563574 PMID:31019288 PMID:32028661 More...
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NCBI chr18:27,154,098...27,193,212
Ensembl chr18:27,163,714...27,193,166
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Smchd1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia |
CTD ClinVar OMIM |
PMID:672092 PMID:5032329 PMID:6802865 PMID:8446727 PMID:8723126 PMID:11321738 PMID:16353241 PMID:23143600 PMID:23432817 PMID:23852095 PMID:25741868 PMID:26440771 PMID:26467025 PMID:26842768 PMID:28067909 PMID:28067911 PMID:28492532 PMID:31243061 PMID:31312724 More...
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NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
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Slc29a3 |
solute carrier family 29 member 3 |
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ISO |
ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome |
ClinVar |
PMID:19175903 PMID:19336477 PMID:19889517 PMID:20595384 PMID:21888995 PMID:22875837 PMID:23530176 PMID:25741868 PMID:27143505 PMID:27364927 PMID:28492532 PMID:29041934 PMID:29751792 PMID:29808591 PMID:31464584 More...
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NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388
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RT1-Da |
RT1 class II, locus Da |
susceptibility |
ISO |
DNA:SNPs,haplotype:introns: |
RGD |
PMID:22391069 |
RGD:13506908 |
NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
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Tbx21 |
T-box transcription factor 21 |
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ISO |
ClinVar Annotator: match by term: Asthma and nasal polyps |
ClinVar |
PMID:15806396 |
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NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
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Alox15 |
arachidonate 15-lipoxygenase |
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ISO |
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance |
ClinVar |
PMID:17959182 PMID:21558275 PMID:25741868 PMID:30643255 |
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NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
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Ltc4s |
leukotriene C4 synthase |
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ISO |
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance |
ClinVar |
PMID:25741868 |
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NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
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Ptger2 |
prostaglandin E receptor 2 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
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NCBI chr15:18,215,013...18,228,714
Ensembl chr15:18,217,285...18,228,714
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Tbx21 |
T-box transcription factor 21 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:25741868 |
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NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
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Ccdc138 |
coiled-coil domain containing 138 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
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Edar |
ectodysplasin-A receptor |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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Gcc2 |
GRIP and coiled-coil domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613
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Lims1 |
LIM zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500
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Ranbp2 |
RAN binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Slc5a7 |
solute carrier family 5 member 7 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 PMID:23141292 PMID:25741868 PMID:27569547 PMID:28492532 PMID:33250374 PMID:36703223 More...
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NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
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Sult1c2a |
sulfotransferase family 1C member 2A |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734
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Sult1c3 |
sulfotransferase family 1C member 3 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030
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Frem1 |
Fras1 related extracellular matrix 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23221805 |
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NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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Dsg3 |
desmoglein 3 |
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ISO |
ClinVar Annotator: match by term: Blistering, acantholytic, of oral and laryngeal mucosa |
OMIM ClinVar |
PMID:25741868 PMID:30528827 |
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NCBI chr18:11,799,355...11,830,988
Ensembl chr18:11,798,900...11,830,818
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Kmt2d |
lysine methyltransferase 2D |
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ISO |
ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome |
OMIM ClinVar |
PMID:12002153 PMID:24728327 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31949313 PMID:32083401 More...
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NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Wfdc2 |
WAP four-disulfide core domain 2 |
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ISO |
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OMIM |
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NCBI chr 3:153,286,946...153,314,832
Ensembl chr 3:153,286,131...153,292,807
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Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Bronchomalacia |
ClinVar |
PMID:16835904 PMID:24033266 PMID:25741868 |
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NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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G |
Adnp2 |
ADNP homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484
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Atp9b |
ATPase phospholipid transporting 9B (putative) |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953
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G |
Ctdp1 |
CTD phosphatase subunit 1 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457
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Galr1 |
galanin receptor 1 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577
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G |
Hsbp1l1 |
heat shock factor binding protein 1-like 1 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045
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G |
Kcng2 |
potassium voltage-gated channel modifier subfamily G member 2 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723
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G |
Mbp |
myelin basic protein |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
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G |
Nfatc1 |
nuclear factor of activated T-cells 1 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028
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G |
Pard6g |
par-6 family cell polarity regulator gamma |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,497,992...73,565,048
Ensembl chr18:73,498,021...73,565,029
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G |
Rbfa |
ribosome binding factor A |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,639,264...73,648,914
Ensembl chr18:73,639,260...73,648,915
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G |
Sall3 |
spalt-like transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789
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G |
Slc66a2 |
solute carrier family 66 member 2 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676
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G |
Txnl4a |
thioredoxin-like 4A |
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ISO |
ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutations,deletions:promoter, cds: DNA:deletions:promoter: |
OMIM ClinVar CTD RGD |
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 PMID:28492532 PMID:32735620 PMID:34713892 PMID:25434003 PMID:28905882 More...
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RGD:11531484, RGD:155882456 |
NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893
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Zfp236 |
zinc finger protein 236 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737
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Zfp516 |
zinc finger protein 516 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269
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Acox1 |
acyl-CoA oxidase 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive |
ClinVar |
PMID:25326637 PMID:28492532 |
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NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232
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G |
Bicd2 |
BICD cargo adaptor 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form |
ClinVar |
PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954 |
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NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
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G |
Gdap1 |
ganglioside-induced differentiation-associated-protein 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive |
OMIM ClinVar |
PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 PMID:12707075 PMID:14561495 PMID:15019704 PMID:15805163 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:20301641 PMID:20301711 PMID:20849849 PMID:21365284 PMID:21519004 PMID:21840889 PMID:25231362 PMID:25337607 PMID:25741868 PMID:26467025 PMID:26848201 PMID:27549087 PMID:28492532 PMID:31589614 PMID:32183277 PMID:32376792 PMID:33187793 PMID:33477664 PMID:35662277 PMID:36140714 More...
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NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
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G |
Lrsam1 |
leucine rich repeat and sterile alpha motif containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22781092 PMID:27686364 |
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NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
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G |
Erf |
Ets2 repressor factor |
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ISO |
ClinVar Annotator: match by term: Chitayat syndrome |
OMIM ClinVar |
PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 More...
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NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
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G |
Kmt2d |
lysine methyltransferase 2D |
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ISO |
ClinVar Annotator: match by term: Choanal atresia |
ClinVar |
PMID:25741868 PMID:31395954 |
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NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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G |
Ptpn14 |
protein tyrosine phosphatase, non-receptor type 14 |
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ISO |
ClinVar Annotator: match by term: Choanal atresia and lymphedema |
OMIM ClinVar |
PMID:20826270 PMID:25741868 |
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NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088
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G |
Edn1 |
endothelin 1 |
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ISO |
protein:increased expression:inferior turbinate, nasal gland, inflammatory cell (human) |
RGD |
PMID:8845175 |
RGD:8661738 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Cd8a |
CD8 subunit alpha |
ameliorates |
ISO |
protein:decreased expression:blood, T cell (human) |
RGD |
PMID:24639246 |
RGD:124715444 |
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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G |
Il17a |
interleukin 17A |
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ISO |
protein:increased expression:uncinate process, nasal mucosa (human) |
RGD |
PMID:23613503 |
RGD:8696039 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il1rn |
interleukin 1 receptor antagonist |
susceptibility |
ISO |
DNA:repeats:intron:IVS2+914_1000dup I/II alleles (human) |
RGD |
PMID:16549749 |
RGD:8549791 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Mbl2 |
mannose binding lectin 2 |
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ISO |
protein:decreased activity:serum: |
RGD |
PMID:23144819 |
RGD:8693716 |
NCBI chr 1:228,016,439...228,024,736
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Prg2 |
proteoglycan 2, pro eosinophil major basic protein |
disease_progression |
ISO |
associated with Nasal Polyps; |
RGD |
PMID:24450586 |
RGD:13506943 |
NCBI chr 3:70,062,535...70,066,102
Ensembl chr 3:70,062,535...70,066,101
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G |
Alox5 |
arachidonate 5-lipoxygenase |
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ISO |
protein:increased expression:bronchus |
RGD |
PMID:11865407 |
RGD:4890421 |
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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G |
Alox5ap |
arachidonate 5-lipoxygenase activating protein |
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ISO |
protein:increased expression:bronchus |
RGD |
PMID:11865407 |
RGD:4890421 |
NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
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ISO |
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RGD |
PMID:20696083 |
RGD:4140458 |
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
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ISO |
associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:respiratory epithelial cell |
RGD |
PMID:20395558 |
RGD:4145446 |
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
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ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:15764644 |
RGD:5135489 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Cxcl3 |
C-X-C motif chemokine ligand 3 |
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ISO |
associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:respiratory epithelial cell |
RGD |
PMID:20395558 |
RGD:4145446 |
NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
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G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
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ISO |
associated with Asthma |
RGD |
PMID:12751040 |
RGD:5135264 |
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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G |
Cxcr2 |
C-X-C motif chemokine receptor 2 |
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ISO |
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RGD |
PMID:19864593 |
RGD:5131210 |
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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G |
Defb4 |
defensin beta 4 |
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ISO |
mRNA, protein:increased expression:nasal cavity epithelium, nasal mucus |
RGD |
PMID:15034083 |
RGD:4892264 |
NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665
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G |
Defb5 |
defensin beta 5 |
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ISO |
mRNA, protein:increased expression:nasal cavity epithelium, nasal mucus |
RGD |
PMID:15034083 |
RGD:4892264 |
NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467
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G |
Ifna2 |
interferon alpha 2 |
treatment |
ISO |
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RGD |
PMID:6381610 |
RGD:40886344 |
NCBI chr 5:103,258,617...103,259,195
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G |
Il10 |
interleukin 10 |
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ISO |
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RGD |
PMID:20696083 |
RGD:4140458 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il1a |
interleukin 1 alpha |
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ISO |
protein:increased expression:nasal mucus |
RGD |
PMID:10358201 |
RGD:4143183 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
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ISO |
protein:increased expression:nasal mucus |
RGD |
PMID:7734976 |
RGD:7401200 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
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ISO |
protein:increased expression:nasal mucus |
RGD |
PMID:18279051 PMID:10358201 |
RGD:4143207, RGD:4143183 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il33 |
interleukin 33 |
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ISO |
protein:increased expression:nasal mucus |
RGD |
PMID:28471975 |
RGD:38596342 |
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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G |
Il4 |
interleukin 4 |
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ISO |
associated with Asthma;mRNA, protein:increased expression:alveolar macrophage, respiratory system fluid/secretion |
RGD |
PMID:20644177 |
RGD:4140459 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Prdx5 |
peroxiredoxin 5 |
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ISO |
associated with asthma;protein:increased expression:sputum (human) |
RGD |
PMID:18219526 |
RGD:41404684 |
NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268
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G |
Tslp |
thymic stromal lymphopoietin |
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ISO |
protein:increased expression:nasal mucus (human) |
RGD |
PMID:28471975 |
RGD:38596342 |
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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G |
Acvrl1 |
activin A receptor like type 1 |
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ISO |
ClinVar Annotator: match by term: Epistaxis |
ClinVar |
PMID:11484689 PMID:15687131 PMID:16540754 PMID:17786384 PMID:18159113 PMID:18498373 PMID:20056902 PMID:20501893 PMID:21378382 PMID:22632830 PMID:23124896 PMID:23298310 PMID:23919827 PMID:25741868 PMID:26387786 PMID:27316748 PMID:28492532 PMID:30260738 PMID:32581362 More...
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NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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G |
Eng |
endoglin |
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ISO |
ClinVar Annotator: match by term: Spontaneous, recurrent epistaxis |
ClinVar RGD |
PMID:15879500 PMID:16542389 PMID:28492532 PMID:30251589 PMID:10562296 |
RGD:11041563 |
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
DNA:deletion:cds (human) |
RGD |
PMID:18066575 |
RGD:7794809 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Brca2 |
BRCA2, DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula |
ClinVar |
PMID:8673090 PMID:8988179 PMID:9150172 PMID:9536098 PMID:9667259 PMID:9792861 PMID:10638982 PMID:11307153 PMID:11802209 PMID:11897832 PMID:15382066 PMID:16683254 PMID:16905680 PMID:17011978 PMID:17148771 PMID:17576681 PMID:17924331 PMID:18375895 PMID:18821011 PMID:19016756 PMID:19656164 PMID:19863560 PMID:20104584 PMID:20406929 PMID:20694749 PMID:21324516 PMID:21990134 PMID:22217648 PMID:22505045 PMID:22632462 PMID:22798144 PMID:22923021 PMID:23035815 PMID:23199084 PMID:23318356 PMID:23451180 PMID:23621881 PMID:24033266 PMID:24156927 PMID:24249303 PMID:25186627 PMID:25382762 PMID:25480878 PMID:25556971 PMID:25741868 PMID:25884701 PMID:25948282 PMID:26026974 PMID:26295337 PMID:26425718 PMID:26467025 PMID:26786923 PMID:27000661 PMID:27060066 PMID:27271530 PMID:27741520 PMID:28008555 PMID:28477318 PMID:28492532 PMID:28503720 PMID:28715532 PMID:28724667 PMID:28825054 PMID:29084914 PMID:29176636 PMID:29446198 PMID:29625052 PMID:29907814 PMID:30274973 PMID:30287823 PMID:30702160 PMID:30787465 PMID:31143373 PMID:31360904 PMID:31447099 PMID:31825140 PMID:31843900 PMID:32300229 PMID:32338768 PMID:32393398 PMID:32658311 PMID:32772980 PMID:32853339 PMID:32885271 PMID:33471991 PMID:34298626 PMID:35714671 PMID:35949895 PMID:36988593 More...
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NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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G |
Gli2 |
GLI family zinc finger 2 |
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IEP |
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RGD |
PMID:12947339 |
RGD:12801415 |
NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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G |
Nog |
noggin |
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ISO ISS |
OMIM:189960 |
MouseDO RGD |
PMID:17260385 |
RGD:12801454 |
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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G |
Sclt1 |
sodium channel and clathrin linker 1 |
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ISO |
ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula |
ClinVar |
PMID:25741868 PMID:28492532 PMID:36135330 PMID:36474027 |
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NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065
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G |
Shh |
sonic hedgehog signaling molecule |
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IEP |
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RGD |
PMID:25003913 |
RGD:12801416 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Ccl7 |
C-C motif chemokine ligand 7 |
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ISO |
protein:increased expression:ethmoid sinus |
RGD |
PMID:9800627 |
RGD:6483785 |
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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Mycn |
MYCN proto-oncogene, bHLH transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brunner Winter syndrome | ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: Microcephaly-oculo-digito-esophageal-duodenal syndrome |
CTD ClinVar |
PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:19852433 PMID:20301770 PMID:21224895 PMID:21532573 PMID:25741868 PMID:28492532 PMID:30573562 PMID:30655312 PMID:33442900 PMID:36474027 More...
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NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Mycn |
MYCN proto-oncogene, bHLH transcription factor |
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ISO |
ClinVar Annotator: match by term: MYCN-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30573562 PMID:37710961 |
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NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Wrap53 |
WD repeat containing, antisense to TP53 |
disease_progression |
ISO |
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RGD |
PMID:28849066 |
RGD:21081521 |
NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
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Lama3 |
laminin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 PMID:9536098 PMID:10366601 PMID:11810295 PMID:12915477 PMID:16199547 PMID:16473856 PMID:17362460 PMID:17576681 PMID:22434185 PMID:23869449 PMID:24033266 PMID:25363238 PMID:25741868 PMID:26635394 PMID:27827380 PMID:28087116 PMID:28492532 PMID:35314946 More...
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NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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Ackr3 |
atypical chemokine receptor 3 |
disease_progression |
ISO |
protein:increased expression:larynx (human) |
RGD |
PMID:16494043 |
RGD:152025548 |
NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237
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Cxcr4 |
C-X-C motif chemokine receptor 4 |
disease_progression |
ISO |
protein:increased expression:larynx (human) |
RGD |
PMID:16494043 |
RGD:152025548 |
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Kmt2c |
lysine methyltransferase 2C |
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ISO |
mRNA:decreased expression:larynx |
RGD |
PMID:25633166 |
RGD:151356763 |
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Socs1 |
suppressor of cytokine signaling 1 |
severity |
ISO |
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RGD |
PMID:20164024 |
RGD:150573814 |
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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Traf6 |
TNF receptor associated factor 6 |
disease_progression |
ISO |
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RGD |
PMID:20164024 |
RGD:150573814 |
NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507
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Ubr5 |
ubiquitin protein ligase E3 component n-recognin 5 |
exacerbates |
ISO |
mRNA, protein:increased expression:larynx (human) |
RGD |
PMID:32468011 |
RGD:151665191 |
NCBI chr 7:69,115,216...69,224,843
Ensembl chr 7:69,116,761...69,224,903
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Xrcc1 |
X-ray repair cross complementing 1 |
susceptibility |
ISO |
DNA:missense mutation:cds: p.R280H (human) DNA:SNPs, haplotype:: (rs3213403, rs1799778, rs3213282) (human) |
RGD |
PMID:27808358 PMID:24956286 |
RGD:151236313, RGD:151236314 |
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Adh7 |
alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18500343 |
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NCBI chr 2:226,748,724...226,763,183
Ensembl chr 2:226,741,788...226,763,182
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Egfr |
epidermal growth factor receptor |
severity |
ISO |
protein:increased expression:tumor (human) |
RGD |
PMID:8883413 |
RGD:5131485 |
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
susceptibility |
ISO |
DNA:snp:exon:c.354T>C (human) (rs11615) |
RGD |
PMID:24582975 |
RGD:13207310 |
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Gstp1 |
glutathione S-transferase pi 1 |
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ISO |
protein:increased expression:larynx |
RGD |
PMID:18335753 |
RGD:4140949 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Mir10a |
microRNA 10a |
sexual_dimorphism |
ISO |
miRNA:decreased expression:larynx epithelium (human) |
RGD |
PMID:25266939 |
RGD:153344531 |
NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280
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Mir34c |
microRNA 34c |
sexual_dimorphism |
ISO |
miRNA:increased expression:larynx epithelium (human) |
RGD |
PMID:25266939 |
RGD:153344531 |
NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
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Mmp9 |
matrix metallopeptidase 9 |
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ISO |
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RGD |
PMID:17786346 |
RGD:5130203 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nat1 |
N-acetyltransferase 1 |
susceptibility |
ISO |
DNA:polymorphism: : |
RGD |
PMID:12037388 |
RGD:5131864 |
NCBI chr16:22,218,217...22,238,516
Ensembl chr16:22,208,194...22,238,520
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Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
severity |
ISO |
protein:increased expression:larynx |
RGD |
PMID:20429377 |
RGD:5135434 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Spp1 |
secreted phosphoprotein 1 |
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ISO |
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RGD |
PMID:16299231 |
RGD:1581365 |
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
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RGD |
PMID:19736197 |
RGD:5135499 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Serpina3n |
serpin family A member 3N |
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ISO |
protein:decreased expression:serum |
RGD |
PMID:16273852 |
RGD:5147435 |
NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433
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Tap1 |
transporter 1, ATP binding cassette subfamily B member |
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ISO |
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RGD |
PMID:10618282 |
RGD:5147846 |
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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Ada |
adenosine deaminase |
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ISO |
protein:decreased activity:larynx |
RGD |
PMID:8138195 |
RGD:152995273 |
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Cat |
catalase |
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ISO |
protein:increased activity:larynx |
RGD |
PMID:8138195 |
RGD:152995273 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Cdc73 |
cell division cycle 73 |
disease_progression |
ISO |
protein:decreased expression:larynx (human) |
RGD |
PMID:27334641 |
RGD:150539447 |
NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656
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Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
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ISO |
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RGD |
PMID:15646812 |
RGD:8662837 |
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Chd4 |
chromodomain helicase DNA binding protein 4 |
exacerbates |
ISO |
mRNA:increased expression:larynx (human) |
RGD |
PMID:33315534 |
RGD:153323310 |
NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
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Egfr |
epidermal growth factor receptor |
disease_progression |
ISO |
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RGD |
PMID:22549618 |
RGD:126790474 |
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
disease_progression |
ISO |
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RGD |
PMID:22549618 |
RGD:126790474 |
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Erbb3 |
erb-b2 receptor tyrosine kinase 3 |
disease_progression |
ISO |
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RGD |
PMID:22549618 |
RGD:126790474 |
NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
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Erbb4 |
erb-b2 receptor tyrosine kinase 4 |
disease_progression |
ISO |
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RGD |
PMID:22549618 |
RGD:126790474 |
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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Foxl2 |
forkhead box L2 |
exacerbates |
ISO |
mRNA:increased expression:larynx (human) |
RGD |
PMID:32517588 |
RGD:151667913 |
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Gpx1 |
glutathione peroxidase 1 |
disease_progression no_association |
ISO |
protein:increased expression:larynx (human) DNA:missense mutation:CDS:p.P198L (human) DNA:missense mutation:CDS:p.P198L (rs1050450) (human) |
RGD |
PMID:28641905 PMID:24074040 PMID:27188866 |
RGD:152995454, RGD:152995493, RGD:152995455 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Map2k4 |
mitogen activated protein kinase kinase 4 |
severity |
ISO |
associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human) |
RGD |
PMID:19513509 |
RGD:150429781 |
NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993
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G |
Mir10a |
microRNA 10a |
severity |
ISO |
miRNA:decreased expression:blood serum (human) |
RGD |
PMID:35117730 |
RGD:153344530 |
NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280
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G |
Mir136 |
microRNA 136 |
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ISO |
RNA:decreased expression:larynx (human) |
RGD |
PMID:32014687 |
RGD:153344610 |
NCBI chr 6:128,549,096...128,549,177
Ensembl chr 6:128,549,096...128,549,177
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Mir21 |
microRNA 21 |
exacerbates |
ISO |
miRNA:increased expression:blood serum (human) |
RGD |
PMID:35117730 |
RGD:153344530 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Mir31 |
microRNA 31 |
disease_progression |
ISO |
RNA:decreased expression:mucosa of larynx (human) |
RGD |
PMID:29737563 |
RGD:152998933 |
NCBI chr 5:103,599,038...103,599,143
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Mlh1 |
mutL homolog 1 |
disease_progression |
ISO |
mRNA:decreased expression:larynx |
RGD |
PMID:23787767 |
RGD:126848783 |
NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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Mmp2 |
matrix metallopeptidase 2 |
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ISO |
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RGD |
PMID:17786346 |
RGD:5130203 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Msh2 |
mutS homolog 2 |
disease_progression |
ISO |
mRNA:decreased expression:larynx |
RGD |
PMID:23787767 |
RGD:126848783 |
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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Nat2 |
N-acetyltransferase 2 |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:19922706 PMID:16155914 |
RGD:5131602, RGD:5131856 |
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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Plcg1 |
phospholipase C, gamma 1 |
ameliorates |
ISO |
mRNA:increased expression:larynx (human) |
RGD |
PMID:33466212 |
RGD:151665160 |
NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330
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Rela |
RELA proto-oncogene, NF-kB subunit |
severity |
ISO |
associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human) |
RGD |
PMID:19513509 |
RGD:150429781 |
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Xdh |
xanthine dehydrogenase |
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ISO |
protein:increased activity:larynx |
RGD |
PMID:8138195 |
RGD:152995273 |
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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G |
Xrcc1 |
X-ray repair cross complementing 1 |
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ISO |
ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma |
ClinVar |
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NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Nfix |
nuclear factor I X |
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ISO |
ClinVar Annotator: match by term: Congenital laryngomalacia |
ClinVar |
PMID:25741868 |
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NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
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Cxcl12 |
C-X-C motif chemokine ligand 12 |
exacerbates |
ISO |
protein:increased expression: mucosa of larynx (human) |
RGD |
PMID:23259294 |
RGD:152177474 |
NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
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G |
Cxcr4 |
C-X-C motif chemokine receptor 4 |
exacerbates |
ISO |
protein:increased expression: mucosa of larynx (human) |
RGD |
PMID:23259294 |
RGD:152177474 |
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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G |
Ercc5 |
ERCC excision repair 5, endonuclease |
susceptibility |
ISO |
DNA:missense mutation:CDS:p.D1104H (human) |
RGD |
PMID:19444904 |
RGD:155260337 |
NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
susceptibility |
ISO |
DNA:missense mutation:CDS:p.R1230P (human) |
RGD |
PMID:19444904 |
RGD:155260337 |
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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G |
Gpx1 |
glutathione peroxidase 1 |
susceptibility |
ISO |
DNA:missense mutation:CDS: (rs1050450) (human) |
RGD |
PMID:23516596 |
RGD:152998903 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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G |
Gstm1 |
glutathione S-transferase mu 1 |
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ISO |
DNA:deletion: : |
RGD |
PMID:19252926 |
RGD:4140943 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstm3 |
glutathione S-transferase mu 3 |
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ISO |
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RGD |
PMID:10067818 |
RGD:5135043 |
NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
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G |
Gstm5 |
glutathione S-transferase, mu 5 |
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ISO |
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RGD |
PMID:10067818 |
RGD:5135043 |
NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553
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G |
Map2k7 |
mitogen activated protein kinase kinase 7 |
ameliorates |
ISO |
mRNA:increased expression:larynx (human) |
RGD |
PMID:32791689 |
RGD:155256869 |
NCBI chr12:2,591,312...2,600,534
Ensembl chr12:2,591,219...2,604,222
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
onset |
ISO |
DNA:insertion:Cds: 3020_3021insC (human) |
RGD |
PMID:20223031 |
RGD:5131515 |
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Vegfa |
vascular endothelial growth factor A |
treatment |
ISO |
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RGD |
PMID:20967863 |
RGD:126925200 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
C3 |
complement C3 |
severity |
ISO |
protein:decreased expression:serum |
RGD |
PMID:6342123 |
RGD:7411735 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
Cd163 |
CD163 molecule |
exacerbates |
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:22851198 PMID:28355218 |
RGD:39939078, RGD:127345133 |
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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G |
Cfb |
complement factor B |
severity |
ISO |
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RGD |
PMID:6342123 |
RGD:7411735 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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G |
Il27 |
interleukin 27 |
ameliorates |
ISO |
mRNA:decreased expression:skin of body (human) |
RGD |
PMID:26030183 |
RGD:126790539 |
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
DNA:SNP:cds:161G>A (human) |
RGD |
PMID:20650301 |
RGD:8694069 |
NCBI chr 1:228,016,439...228,024,736
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G |
RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
DNA:polymorphisms: :HLA-DQA1*03, HLA-DQA1*05 (human) |
RGD |
PMID:19698125 |
RGD:5147788 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
Vdr |
vitamin D receptor |
|
ISO |
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GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Batf3 |
basic leucine zipper ATF-like transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25642632 |
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NCBI chr13:102,689,657...102,701,241
Ensembl chr13:102,689,657...102,701,139
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G |
Ccdc122 |
coiled-coil domain containing 122 |
|
ISO |
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr15:52,407,717...52,470,163
Ensembl chr15:52,407,717...52,470,163
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G |
Ccdc88b |
coiled-coil domain containing 88B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25642632 |
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NCBI chr 1:204,036,913...204,052,878
Ensembl chr 1:204,036,918...204,052,970
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G |
Cd8a |
CD8 subunit alpha |
exacerbates |
ISO |
mRNA:increased expression:blood (human) |
RGD |
PMID:31784594 |
RGD:124715449 |
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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G |
Il10 |
interleukin 10 |
|
ISO |
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il17a |
interleukin 17A |
severity |
ISO |
mRNA:decreased expression:epidermis (human) |
RGD |
PMID:22641009 |
RGD:8698644 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il19 |
interleukin 19 |
|
ISO |
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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G |
Il23r |
interleukin 23 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22019778 |
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NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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G |
Lacc1 |
laccase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr15:52,390,267...52,407,630
Ensembl chr15:52,395,183...52,407,545
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G |
Lrrk2 |
leucine-rich repeat kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703
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G |
Lta |
lymphotoxin alpha |
susceptibility |
ISO |
ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:15052269 PMID:17353895 |
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NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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G |
Mrc1 |
mannose receptor, C type 1 |
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ISO |
ClinVar Annotator: match by term: Susceptibility to leprosy and multibacillary leprosy |
ClinVar |
PMID:20035344 |
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NCBI chr17:77,249,187...77,330,857
Ensembl chr17:77,249,187...77,330,857
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
|
ISO |
DNA:polymorphisms: :multiple (human) ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 |
ClinVar RGD |
PMID:25741868 PMID:20350193 |
RGD:5508743 |
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Parl |
presenilin associated, rhomboid-like |
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ISO |
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 |
ClinVar |
|
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NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
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G |
Pink1 |
PTEN induced kinase 1 |
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ISO |
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 |
ClinVar |
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NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
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G |
Prkn |
parkin RBR E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: LPRS2 |
ClinVar |
PMID:10072423 PMID:11558785 PMID:11889248 PMID:12114481 PMID:12730996 PMID:12764051 PMID:12891670 PMID:14519684 PMID:15390068 PMID:15970950 PMID:16049031 PMID:16714300 PMID:17766365 PMID:19162522 PMID:19636047 PMID:19801972 PMID:20457763 PMID:20558392 PMID:20798600 PMID:22118943 PMID:22555654 PMID:23531835 PMID:24082139 PMID:24647965 PMID:24831986 PMID:25591737 PMID:25741868 PMID:25815004 PMID:25907632 PMID:25939424 PMID:26188007 PMID:26467025 PMID:26683220 PMID:26764160 PMID:26836416 PMID:26855076 PMID:27182553 PMID:27294386 PMID:28492532 PMID:29353703 PMID:30200940 PMID:30537300 PMID:30609409 PMID:30994895 PMID:31409571 PMID:32970363 PMID:33045815 PMID:33497488 PMID:33845304 PMID:35640906 PMID:35954270 More...
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NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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G |
Rab32 |
RAB32, member RAS oncogene family |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22019778 |
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NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934
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G |
Ripk2 |
receptor-interacting serine-threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 |
ClinVar |
|
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NCBI chr 5:29,630,806...29,662,804
Ensembl chr 5:29,631,570...29,662,657
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphisms (human) |
RGD |
PMID:20003324 PMID:19698125 |
RGD:5147585, RGD:5147788 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Slc11a1 |
solute carrier family 11 member 1 |
susceptibility |
ISO |
DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms, haplotype (human) |
CTD RGD |
PMID:16597321 PMID:15755200 PMID:10608779 |
RGD:5684957, RGD:5684972 |
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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G |
Tlr1 |
toll-like receptor 1 |
susceptibility |
ISO |
DNA:snp:cds:p.I602S (human) ClinVar Annotator: match by term: LPRS1 | ClinVar Annotator: match by term: Leprosy, susceptibility to, 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 PMID:25741868 PMID:26729809 PMID:17548585 More...
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RGD:7246917 |
NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
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G |
Tlr2 |
toll-like receptor 2 |
susceptibility |
ISO |
DNA:polymorphisms:microsatellite,597C>T(human) ClinVar Annotator: match by term: Leprosy, susceptibility to, 3 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:11476982 PMID:12646604 PMID:15726416 PMID:19111445 PMID:25741868 PMID:28492532 PMID:18177245 More...
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RGD:8553055 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr6 |
toll-like receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 |
ClinVar |
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NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
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G |
Tnf |
tumor necrosis factor |
susceptibility |
ISO |
DNA:SNP:promoter:−308G>A (human) |
RGD |
PMID:20650301 |
RGD:8694069 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfsf15 |
TNF superfamily member 15 |
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ISO |
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 |
ClinVar |
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NCBI chr 5:77,134,885...77,156,171
Ensembl chr 5:77,139,878...77,156,228
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G |
Tnfsf8 |
TNF superfamily member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25320285 |
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NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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G |
Ecm1 |
extracellular matrix protein 1 |
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ISO |
ClinVar Annotator: match by term: Lipid proteinosis CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:11929856 PMID:12472532 PMID:12603844 PMID:15327549 PMID:16172042 PMID:17063986 PMID:17199583 PMID:17927570 PMID:24413997 PMID:24708644 PMID:25529926 PMID:25741868 PMID:26803878 PMID:27194970 PMID:28492532 PMID:28720532 PMID:11929856 More...
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RGD:734912 |
NCBI chr 2:183,287,491...183,292,729
Ensembl chr 2:183,287,322...183,292,671
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G |
Rfx6 |
regulatory factor X, 6 |
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ISO |
ClinVar Annotator: match by term: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA |
ClinVar |
PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 PMID:25741868 PMID:26264437 PMID:26559129 PMID:27523286 PMID:28492532 PMID:29026101 More...
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NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147
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G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
|
ISO |
|
RGD |
PMID:15040115 |
RGD:8662355 |
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7854095 |
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NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Lta |
lymphotoxin alpha |
|
ISO |
DNA:polymorphism:intron |
RGD |
PMID:7595196 |
RGD:8548799 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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G |
Tnf |
tumor necrosis factor |
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ISO |
DNA:SNP:promoter:-308G>A (human) |
RGD |
PMID:7595196 |
RGD:8548799 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Ggt1 |
gamma-glutamyltransferase 1 |
|
ISO |
protein:increased activity:blood: |
RGD |
PMID:1680936 |
RGD:14747017 |
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
|
ISO |
DNA:polymorphism (human) |
RGD |
PMID:20353806 |
RGD:5147577 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Slc11a1 |
solute carrier family 11 member 1 |
|
ISO |
DNA:insertion/deletion:3' utr (human) |
RGD |
PMID:11791966 |
RGD:5684970 |
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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G |
Clu |
clusterin |
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ISO |
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RGD |
PMID:19903339 |
RGD:9014708 |
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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G |
Sox2 |
SRY-box transcription factor 2 |
|
ISO |
DNA:amplification |
RGD |
PMID:23544055 |
RGD:8661654 |
NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
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G |
Tp53 |
tumor protein p53 |
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ISO |
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RGD |
PMID:19950227 |
RGD:8547762 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Npy |
neuropeptide Y |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9288221 |
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NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
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ISO |
associated with Chronic Rhinosinusitis;protein:increased expression:nasal sinus (human) |
RGD |
PMID:22223515 |
RGD:8657074 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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G |
Adrb2 |
adrenoceptor beta 2 |
susceptibility |
ISO |
DNA:polymorphism:p.R16G(human) |
RGD |
PMID:17621827 |
RGD:8548469 |
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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G |
Alox12 |
arachidonate 12-lipoxygenase, 12S type |
|
ISO |
mRNA:decreased expression:nasal cavity epithelium |
RGD |
PMID:20554417 |
RGD:5509597 |
NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
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G |
Alox15 |
arachidonate 15-lipoxygenase |
|
ISO |
mRNA:increased expression:nasal cavity epithelium CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30643255 PMID:20554417 |
RGD:5509597 |
NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
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G |
Ang |
angiogenin |
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ISO |
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RGD |
PMID:21711968 |
RGD:6892710 |
NCBI chr15:24,312,711...24,323,361
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G |
Anxa1 |
annexin A1 |
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ISO |
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RGD |
PMID:20549082 |
RGD:7421567 |
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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G |
Bdnf |
brain-derived neurotrophic factor |
|
ISO |
associated with Sinusitis;protein:decreased expression:respiratory system mucosa |
RGD |
PMID:19958603 |
RGD:4891064 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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G |
Cat |
catalase |
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ISO |
protein:increased activity:nasal concha: |
RGD |
PMID:16287205 |
RGD:9479048 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Ccl1 |
C-C motif chemokine ligand 1 |
|
ISO |
associated with Sinusitis |
RGD |
PMID:20598643 |
RGD:4891418 |
NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
|
ISO |
mRNA:increased expression:nasal cavity epithelium |
RGD |
PMID:10415058 |
RGD:4145448 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
protein:increased expression:sinus: |
RGD |
PMID:22287435 |
RGD:7483612 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl20 |
C-C motif chemokine ligand 20 |
|
ISO |
associated with Allergic Rhinitis associated with Rhinosinusitis |
RGD |
PMID:19027509 PMID:22287435 |
RGD:7483586, RGD:7483612 |
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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G |
Ccl24 |
C-C motif chemokine ligand 24 |
|
ISO |
mRNA:increased expression:nasal cavity epithelium |
RGD |
PMID:10415058 |
RGD:4145448 |
NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893
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G |
Ccl26 |
C-C motif chemokine ligand 26 |
|
ISO |
associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium |
RGD |
PMID:21303604 |
RGD:5130929 |
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
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ISO |
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RGD |
PMID:22287435 |
RGD:7483612 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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G |
Ccr6 |
C-C motif chemokine receptor 6 |
|
ISO |
associated with Rhinosinusitis |
RGD |
PMID:22287435 |
RGD:7483612 |
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
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G |
Chia |
chitinase, acidic |
|
ISO |
associated with Sinusitis; mRNA:increased expression:mucosa of ethmoidal sinus (human) |
RGD |
PMID:16871939 |
RGD:5024927 |
NCBI chr 2:193,614,374...193,656,532
Ensembl chr 2:193,614,114...193,656,533
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G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
|
ISO |
associated with Sinusitis;mRNA:increased expression:respiratory system mucosa |
RGD |
PMID:19178793 |
RGD:5134986 |
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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G |
Cxcl3 |
C-X-C motif chemokine ligand 3 |
|
ISO |
associated with Sinusitis;mRNA:increased expression:respiratory system mucosa |
RGD |
PMID:19178793 |
RGD:5134986 |
NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
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G |
Cysltr1 |
cysteinyl leukotriene receptor 1 |
|
ISO |
protein:increased expression:nasal cavity epithelium associated with Asthma associated with Rhinitis;mRNA:increased expression:nasal cavity epithelium |
RGD |
PMID:16739673 PMID:11591188 PMID:16689996 |
RGD:4889117, RGD:4848936, RGD:4783198 |
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
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G |
Egr1 |
early growth response 1 |
|
ISO |
mRNA:increased expression:nasal polyp (human) |
RGD |
PMID:19158123 |
RGD:4890001 |
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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G |
Fas |
Fas cell surface death receptor |
|
ISO |
protein:decreased expression:nasal polyp (human) |
RGD |
PMID:15283292 |
RGD:8662435 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Fgf1 |
fibroblast growth factor 1 |
|
ISO |
|
RGD |
PMID:16720444 |
RGD:8655569 |
NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357
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G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
|
RGD |
PMID:16720444 |
RGD:8655569 |
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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G |
Gstm1 |
glutathione S-transferase mu 1 |
|
ISO |
associated with GSTT1 null genotype:DNA:deletion: : |
RGD |
PMID:16550944 |
RGD:4142528 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstt1 |
glutathione S-transferase theta 1 |
|
ISO |
DNA:deletion: : |
RGD |
PMID:19701760 |
RGD:4142518 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Hgf |
hepatocyte growth factor |
|
ISO |
mRNA,protein:increased expression:nasal cavity mucosa: |
RGD |
PMID:16982975 |
RGD:8548613 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
protein:increased expression:nasal cavity epithelium |
RGD |
PMID:11593541 |
RGD:8547687 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Ifng |
interferon gamma |
|
ISO |
protein:increased expression:nasal mucosa, tissue: |
RGD |
PMID:9149164 |
RGD:8158035 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Igf1 |
insulin-like growth factor 1 |
|
ISO |
mRNA:increased expression:nasal cavity mucosa: |
RGD |
PMID:18202785 |
RGD:8548875 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Il10 |
interleukin 10 |
|
ISO |
|
RGD |
PMID:22462754 |
RGD:7364835 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il13 |
interleukin 13 |
|
ISO |
associated with Rhinosinusitis;protein:increased expression:serum |
RGD |
PMID:23969075 |
RGD:8549540 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il16 |
interleukin 16 |
|
ISO |
associated with Sinusitis |
RGD |
PMID:17431659 |
RGD:5024933 |
NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
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G |
Il17a |
interleukin 17A |
|
ISO |
protein:increased expression:nose, serum associated with rhinitis; protein:increased expression:nasal mucosa |
RGD |
PMID:20506642 PMID:21091665 |
RGD:4889137, RGD:4889132 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il1a |
interleukin 1 alpha |
susceptibility |
ISO |
associated with asthma;DNA:polymorphism:exon: DNA:SNPs:exon: |
RGD |
PMID:12752325 PMID:17638785 |
RGD:4142804, RGD:4142855 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il5ra |
interleukin 5 receptor subunit alpha |
|
ISO |
protein:increased expression:nasal mucus, serum |
RGD |
PMID:12752323 |
RGD:5128621 |
NCBI chr 4:139,630,652...139,664,593
Ensembl chr 4:139,632,066...139,668,544
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G |
Il9 |
interleukin 9 |
|
ISO |
associated with Bronchial Hyperreactivity |
RGD |
PMID:15007348 |
RGD:5128694 |
NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
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G |
Itgal |
integrin subunit alpha L |
|
ISO |
protein:increased expression:nasal cavity epithelium |
RGD |
PMID:11593541 |
RGD:8547687 |
NCBI chr 1:181,918,183...181,955,735
Ensembl chr 1:181,918,183...181,955,732
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G |
Jun |
Jun proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
mRNA:decreased expression:nasal cavity epithelium |
RGD |
PMID:19158123 |
RGD:4890001 |
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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G |
Kdr |
kinase insert domain receptor |
|
ISO |
protein:increased expression:inferior nasal concha: |
RGD |
PMID:12515274 |
RGD:8551781 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Kitlg |
KIT ligand |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15813808 |
|
NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214
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G |
Lepr |
leptin receptor |
|
ISO |
mRNA:increased expression:nose |
RGD |
PMID:20422702 |
RGD:5129163 |
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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G |
Mbl2 |
mannose binding lectin 2 |
|
ISO |
associated with Sinusitis; protein:increased secretion:serum (human) |
RGD |
PMID:19593977 |
RGD:4889484 |
NCBI chr 1:228,016,439...228,024,736
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|
G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
mRNA,protein:increased expression:nasal cavity mucosa: |
RGD |
PMID:16982975 |
RGD:8548613 |
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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|
G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa |
RGD |
PMID:23064462 |
RGD:8549735 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp2 |
matrix metallopeptidase 2 |
treatment |
ISO |
associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa |
RGD |
PMID:23064462 PMID:21305560 |
RGD:8549735, RGD:8656001 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp9 |
matrix metallopeptidase 9 |
susceptibility disease_progression |
ISO |
associated with Asthma, Aspirin-Induced; DNA:polymorphism:promoter: -1562C>T (human) associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa |
RGD |
PMID:19958602 PMID:23987197 PMID:23064462 |
RGD:5130861, RGD:8657056, RGD:8549735 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
|
ISO |
|
RGD |
PMID:15715404 |
RGD:7364740 |
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
mRNA:increased expression:nasal mucosa DNA:repeats:promoter |
RGD |
PMID:20554417 PMID:18714530 |
RGD:5509597, RGD:4891508 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Nos3 |
nitric oxide synthase 3 |
|
ISO |
protein:increased expression:nasal mucosa (human) |
RGD |
PMID:15942806 |
RGD:7771559 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Plaur |
plasminogen activator, urokinase receptor |
|
ISO |
associated with Sinusitis |
RGD |
PMID:21711960 |
RGD:6483796 |
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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G |
Pon1 |
paraoxonase 1 |
|
ISO |
protein:decreased activity:serum (human) |
RGD |
PMID:23238704 |
RGD:8547666 |
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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G |
Ppp1r9b |
protein phosphatase 1, regulatory subunit 9B |
|
ISO |
associated with Chronic Rhinosinusitis;mRNA:increased expression:mucosa of paranasal sinus (human) |
RGD |
PMID:18391768 |
RGD:9999402 |
NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083
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|
G |
Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
|
ISO |
associated with Cystic Fibrosis; protein:increased expression:nasal mucosa: |
RGD |
PMID:16517580 |
RGD:5143924 |
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
associated with Cystic Fibrosis; protein:increased expression:nasal mucosa: |
RGD |
PMID:16517580 |
RGD:5143924 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
associated with intrinsic asthma;DNA:polymorphism:cds:HLA-DQA1*0201 (human) DNA:polymorphism,haplotype: :HLA-DQA1*0201 |
RGD |
PMID:10718431 PMID:16890076 |
RGD:5147813, RGD:8547658 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
associated with intrinsic asthma;DNA:polymorphism, haplotype:cds:HLA-DQB1*0202 (human) DNA:haplotype: : HLA-DQB1*0201; |
RGD |
PMID:10718431 PMID:16890076 |
RGD:5147813, RGD:8547658 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
RT1-CE13 |
RT1 class I, locus CE13 |
susceptibility |
ISO |
DNA:polymorphisms:cds:HLA-B*07, HLA-B*57 (human, Turkish) |
RGD |
PMID:18922348 |
RGD:7364876 |
NCBI chr20:3,314,830...3,318,106
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|
G |
RT1-Db1 |
RT1 class II, locus Db1 |
|
ISO |
associated with intrinsic asthma;DNA:polymorphisms:cds:HLA-DR7 (human) |
RGD |
PMID:10718431 |
RGD:5147813 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
mRNA, protein:increased expression:middle nasal turbinate, lamella (human) associated with Rhinosinusitis;protein:decreased expression:nasal mucosa: |
RGD |
PMID:16540901 PMID:23921602 |
RGD:1581230, RGD:8547534 |
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
associated with Rhinosinusitis;mRNA,protein:decreased expression:nasal mucosa: |
RGD |
PMID:23921602 |
RGD:8547534 |
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Sod3 |
superoxide dismutase 3 |
|
ISO |
mRNA, protein:increased expression:middle nasal turbinate, lamella (human) |
RGD |
PMID:16540901 |
RGD:1581230 |
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
|
RGD |
PMID:22959364 |
RGD:8694314 |
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
associated with Rhinitis mRNA:decreased expression:nasal cavity epithelium |
RGD |
PMID:18423831 PMID:23406597 PMID:12761968 |
RGD:4145277, RGD:7394852, RGD:7394830 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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|
G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
associated with Cystic Fibrosis;mRNA:increased expression:inferior nasal concha: |
RGD |
PMID:15836755 |
RGD:8552992 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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|
G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
associated with Rhinosinusitis;mRNA,protein:increased expression: |
RGD |
PMID:23157229 |
RGD:7800741 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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|
G |
Tlr7 |
toll-like receptor 7 |
|
ISO |
associated with Rhinosinusitis;mRNA,protein:increased expression: |
RGD |
PMID:23157229 |
RGD:7800741 |
NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754
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|
G |
Tnc |
tenascin C |
|
ISO |
protein:increased expression:nasal cavity epithelium |
RGD |
PMID:12916355 |
RGD:4889591 |
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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|
G |
Tnf |
tumor necrosis factor |
|
ISO |
DNA:SNPs:promoter: |
RGD |
PMID:17638785 |
RGD:4142855 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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|
G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
mRNA:decreased expression:nasal polyp (human) |
RGD |
PMID:19095579 |
RGD:5131442 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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|
G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
|
ISO |
mRNA:decreased expression:nasal polyp (human) |
RGD |
PMID:19095579 |
RGD:5131442 |
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
protein:increased expression:Turbinates: |
RGD |
PMID:12761968 |
RGD:7394830 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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|
|
G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
severity |
ISO |
Nasal Type;protein:increased expression:nasal cavity (human) |
RGD |
PMID:18756548 |
RGD:8657087 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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|
G |
Cd274 |
CD274 molecule |
disease_progression |
ISO |
associated with Epstein-Barr Virus Infections |
RGD |
PMID:27595782 |
RGD:41412182 |
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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|
G |
Cflar |
CASP8 and FADD-like apoptosis regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15924153 |
|
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
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|
G |
Fas |
Fas cell surface death receptor |
|
ISO |
DNA:insertion, deletions:cds:multiple (human) |
RGD |
PMID:12466128 |
RGD:8662407 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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|
G |
Gpx3 |
glutathione peroxidase 3 |
treatment |
ISO |
associated with ethmoid sinus cancer and Neoplasm Metastasis |
RGD |
PMID:29496492 |
RGD:151708712 |
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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|
G |
Jak3 |
Janus kinase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22705984 PMID:23689514 |
|
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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G |
Prdm1 |
PR/SET domain 1 |
disease_progression |
ISO |
|
RGD |
PMID:24438193 |
RGD:150530467 |
NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488
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G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
protein:increased expression:nasal cavity (human) |
RGD |
PMID:17225522 |
RGD:153298933 |
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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|
G |
Stat5b |
signal transducer and activator of transcription 5B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29200404 |
|
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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|
|
G |
Ccnd1 |
cyclin D1 |
onset |
ISO |
DNA:polymorphism: :870A>G |
RGD |
PMID:18355450 |
RGD:2296033 |
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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G |
Ctps1 |
CTP synthase 1 |
|
ISO |
mRNA:increased expression:nasopharynx (human) |
RGD |
PMID:19302751 |
RGD:5132859 |
NCBI chr 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180
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G |
Ednra |
endothelin receptor type A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17032313 |
|
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
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G |
Egfr |
epidermal growth factor receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21786012 |
|
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Nasopharyngeal Neoplasms | ClinVar Annotator: match by term: Nasopharyngeal neoplasm |
ClinVar |
PMID:17525745 PMID:18552176 PMID:22238366 PMID:23002168 PMID:23908597 PMID:25157968 PMID:26619011 More...
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NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Nasopharyngeal Neoplasms |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
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NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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G |
Lrrc56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Nasopharyngeal Neoplasms |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
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NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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G |
Mecom |
MDS1 and EVI1 complex locus |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20512145 |
|
NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17607721 |
|
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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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:19966803 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:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
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NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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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:15930273 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:21078999 PMID:21430269 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22658544 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26619011 PMID:26627007 PMID:26637981 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29661094 PMID:30376034 PMID:30543347 PMID:31536475 PMID:32778138 PMID:37712948 More...
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Rassf2 |
Ras association domain family member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17013896 |
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NCBI chr 3:119,244,288...119,280,462
Ensembl chr 3:119,245,821...119,280,431
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Tnfrsf19 |
TNF receptor superfamily member 19 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20512145 |
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NCBI chr15:35,092,206...35,158,472
Ensembl chr15:35,092,206...35,180,795
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Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Nasopharyngeal Neoplasms |
ClinVar |
PMID:1631151 PMID:6736287 PMID:7707106 PMID:7885831 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8164043 PMID:8344492 PMID:8464896 PMID:8633021 PMID:8825920 PMID:8869100 PMID:9546439 PMID:9632751 PMID:10589545 PMID:10871862 PMID:10914716 PMID:11370630 PMID:11782540 PMID:12007217 PMID:12124823 PMID:12826609 PMID:15607980 PMID:15607981 PMID:15825182 PMID:16288208 PMID:16401470 PMID:16494995 PMID:16736287 PMID:16818505 PMID:16861262 PMID:17541742 PMID:17606709 PMID:17724467 PMID:18208484 PMID:18555592 PMID:19468865 PMID:19834951 PMID:20128691 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:21343334 PMID:21514416 PMID:21519010 PMID:21626334 PMID:21761402 PMID:22006311 PMID:22186996 PMID:22915647 PMID:22999923 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23265383 PMID:23334668 PMID:23792586 PMID:24033266 PMID:24384472 PMID:24573247 PMID:24728327 PMID:25503501 PMID:25741868 PMID:25927356 PMID:25952993 PMID:26024390 PMID:26230955 PMID:26270727 PMID:26467025 PMID:26585234 PMID:26619011 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28135145 PMID:28369373 PMID:28492532 PMID:28724667 PMID:28861920 PMID:29076966 PMID:29489754 PMID:29979965 PMID:30216591 PMID:30224644 PMID:30299350 PMID:30327374 PMID:30720243 PMID:30840781 PMID:31119730 PMID:31296311 PMID:31775759 PMID:32019277 PMID:33245408 PMID:33300245 PMID:33332384 PMID:33633026 PMID:34266904 PMID:35820297 PMID:15118671 More...
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RGD:1331525 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Wif1 |
Wnt inhibitory factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17384664 |
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NCBI chr 7:56,548,060...56,618,364
Ensembl chr 7:56,548,053...56,618,360
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Ptch1 |
patched 1 |
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ISO |
mRNA:decreased expression:epithelium of nasopharynx |
RGD |
PMID:23001130 |
RGD:150523839 |
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Arid1a |
AT-rich interaction domain 1A |
disease_progression |
ISO |
protein:decreased expression:nasopharynx(human) |
RGD |
PMID:31213911 |
RGD:126781707 |
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Atm |
ATM serine/threonine kinase |
treatment |
ISO |
protein:decreased expression:epithelium of nasopharynx (human) associated with Epstein-Barr Virus Infections;mRNA:decreased expression:nasopharyngeal tissue (human) |
RGD |
PMID:29230817 PMID:28820634 PMID:19142888 |
RGD:126779560, RGD:150340692, RGD:126790562 |
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atr |
ATR serine/threonine kinase |
treatment |
ISO |
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RGD |
PMID:28820634 |
RGD:150340692 |
NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
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Bcl2 |
BCL2, apoptosis regulator |
disease_progression |
ISO |
protein:increased expression:epithelium of nasopharynx (human) |
RGD |
PMID:12099337 |
RGD:11526103 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Brca1 |
BRCA1, DNA repair associated |
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ISO |
DNA:nonsense mutation: :p.Q563* (human) |
RGD |
PMID:28857155 |
RGD:127229936 |
NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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Btk |
Bruton tyrosine kinase |
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ISO |
mRNA:decreased expression:nasopharynx (human) |
RGD |
PMID:33096113 |
RGD:151347855 |
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Calr |
calreticulin |
exacerbates disease_progression |
ISO |
protein:increased expression:epithelium of nasopharynx (human) |
RGD |
PMID:31632490 PMID:31956372 |
RGD:150520157, RGD:150521689 |
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Ccnd2 |
cyclin D2 |
disease_progression |
ISO |
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RGD |
PMID:20473882 |
RGD:151665334 |
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Cd163 |
CD163 molecule |
exacerbates |
ISO |
protein:increased expression:nasopharynx, macrophage (human) |
RGD |
PMID:28395580 |
RGD:127285800 |
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Chrna5 |
cholinergic receptor nicotinic alpha 5 subunit |
susceptibility |
ISO |
DNA:SNP: :rs3841324(human) |
RGD |
PMID:25329654 |
RGD:150527838 |
NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146
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Clptm1l |
CLPTM1-like |
susceptibility |
ISO |
DNA:SNP: :rs401681(human) protein:increased expression:nasopharynx DNA:SNP:intron:rs31489(human) |
RGD |
PMID:26621837 PMID:26621837 PMID:26545403 PMID:31270100 |
RGD:11564613, RGD:11564613, RGD:11556976, RGD:150537099 |
NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
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Cr2 |
complement C3d receptor 2 |
susceptibility |
ISO |
DNA:SNP:5'UTR:24T>C (rs3813946)(human) |
RGD |
PMID:23612877 |
RGD:127338247 |
NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
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Csf1r |
colony stimulating factor 1 receptor |
treatment |
ISO |
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RGD |
PMID:22267178 |
RGD:150524299 |
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Cxcr4 |
C-X-C motif chemokine receptor 4 |
disease_progression exacerbates |
ISO |
mRNA:increased expression:nasopharynx (human) protein:increased expression:nasopharynx (human) |
RGD |
PMID:26611644 PMID:15978137 |
RGD:152023644, RGD:152177484 |
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
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ISO |
DNA:SNP: :rs2031920 (human) |
RGD |
PMID:26582733 |
RGD:11061495 |
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Dab2ip |
DAB2 interacting protein |
disease_progression |
ISO |
mRNA,protein:decreased expression:epithelium of nasopharynx (human) |
RGD |
PMID:28586035 |
RGD:151665144 |
NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280
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Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
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ISO |
mRNA:increased expression:epithelium of nasopharynx |
RGD |
PMID:18023033 |
RGD:150429715 |
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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Efnb2 |
ephrin B2 |
disease_progression |
ISO |
protein:increased expression:nasopharynx (human) |
RGD |
PMID:23631129 |
RGD:153305949 |
NCBI chr16:80,783,389...80,827,420
Ensembl chr16:80,783,417...80,824,391
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Erbb3 |
erb-b2 receptor tyrosine kinase 3 |
disease_progression |
ISO |
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RGD |
PMID:24825912 |
RGD:126781774 |
NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
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Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
disease_progression |
ISO |
mRNA, protein:increased expression:ventral nasal meatus |
RGD |
PMID:21300475 |
RGD:126779603 |
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Fgfr4 |
fibroblast growth factor receptor 4 |
severity |
ISO |
protein:increased expression:nasopharynx (human) |
RGD |
PMID:26535066 |
RGD:150520063 |
NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
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Flt1 |
Fms related receptor tyrosine kinase 1 |
disease_progression |
ISO |
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RGD |
PMID:16480593 |
RGD:126925191 |
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Fosl2 |
FOS like 2, AP-1 transcription factor subunit |
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ISO |
mRNA:increased expression:nasopharynx (human) |
RGD |
PMID:30326930 |
RGD:153344557 |
NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034
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Fubp1 |
far upstream element binding protein 1 |
exacerbates |
ISO |
protein:increased expression:nasopharynx (human) |
RGD |
PMID:26469968 |
RGD:11343512 |
NCBI chr 2:241,159,481...241,186,591
Ensembl chr 2:241,159,512...241,186,602
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Gpx1 |
glutathione peroxidase 1 |
susceptibility |
ISO |
DNA:missense mutation:CDS:p.P198L (human) |
RGD |
PMID:33616746 |
RGD:152995452 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
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ISO |
protein:decreased expression:nasopharynx (human) |
RGD |
PMID:26681223 |
RGD:150539449 |
NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637
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Gstm1 |
glutathione S-transferase mu 1 |
no_association |
ISO |
DNA:SNP: :1270533T>G (human) |
RGD |
PMID:24711137 PMID:19448408 |
RGD:14700933, RGD:14700955 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Jak2 |
Janus kinase 2 |
severity |
ISO |
protein:increased expression:mucosa of nasopharynx (human) |
RGD |
PMID:30123088 |
RGD:149735327 |
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Kdm3a |
lysine demethylase 3A |
severity |
ISO |
protein:decreased expression:nasopharyngeal epithelium (human) |
RGD |
PMID:21541331 |
RGD:9590228 |
NCBI chr 4:103,630,907...103,675,073
Ensembl chr 4:103,630,908...103,675,073
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Kdr |
kinase insert domain receptor |
disease_progression |
ISO |
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RGD |
PMID:16480593 |
RGD:126925191 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Kmt2c |
lysine methyltransferase 2C |
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ISO |
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RGD |
PMID:31646828 |
RGD:151356762 |
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Map2k4 |
mitogen activated protein kinase kinase 4 |
ameliorates |
ISO |
DNA:SNP:promoter: -1304T>G, -1304G>G (human) associated with Epstein-Barr Virus Infections; DNA:SNPs:promoter: -1304G>G, -1304T>G (human) |
RGD |
PMID:27373035 PMID:21702039 |
RGD:150429759, RGD:150429763 |
NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993
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Mapk14 |
mitogen activated protein kinase 14 |
treatment |
ISO |
human cell line in a mouse model |
RGD |
PMID:32449282 |
RGD:151665502 |
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
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Mir132 |
microRNA 132 |
treatment |
ISO |
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RGD |
PMID:29442000 |
RGD:151665745 |
NCBI chr10:60,023,696...60,023,796
Ensembl chr10:60,023,696...60,023,796
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Mir152 |
microRNA 152 |
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ISO |
miRNA:decreased expression:nasopharynx |
RGD |
PMID:28000885 |
RGD:19165149 |
NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020
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Mir154 |
microRNA 154 |
disease_progression |
ISO |
RNA:decreased expression:epithelium of nasopharynx (human) |
RGD |
PMID:32214824 |
RGD:152995464 |
NCBI chr 6:128,752,947...128,753,030
Ensembl chr 6:128,752,947...128,753,030
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Mir222 |
microRNA 222 |
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ISO |
RNA:increased expression:nasopharynx |
RGD |
PMID:29115464 |
RGD:151708744 |
NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
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Mir31 |
microRNA 31 |
disease_progression ameliorates |
ISO |
RNA:decreased expression:peripheral blood mononuclear cell (human) Human cells in mouse model |
RGD |
PMID:31129965 PMID:25098679 |
RGD:152998936, RGD:152998921 |
NCBI chr 5:103,599,038...103,599,143
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Mir423 |
microRNA 423 |
disease_progression |
ISO |
mRNA:decreased expression:nasopharynx (human) |
RGD |
PMID:30326930 |
RGD:153344557 |
NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226
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Mst1r |
macrophage stimulating 1 receptor |
susceptibility |
ISO |
ClinVar Annotator: match by term: Nasopharyngeal carcinoma, susceptibility to, 3 |
OMIM ClinVar |
PMID:25741868 PMID:26951679 PMID:28492532 |
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NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455
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Muc5b |
mucin 5B, oligomeric mucus/gel-forming |
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IEP |
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RGD |
PMID:19068094 |
RGD:2325214 |
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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Npc1 |
NPC intracellular cholesterol transporter 1 |
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ISO |
ClinVar Annotator: match by term: Nasopharyngeal carcinoma |
ClinVar |
PMID:10480349 PMID:11182931 PMID:11333381 PMID:11349231 PMID:12408188 PMID:12554680 PMID:12813037 PMID:12955717 PMID:12974729 PMID:20301473 PMID:20489167 PMID:20981092 PMID:21550990 PMID:22995991 PMID:23433426 PMID:25741868 PMID:28492532 More...
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NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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Ppia |
peptidylprolyl isomerase A |
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ISO |
mRNA, protein:increased expression:blood serum, nasopharynx, extracellular exosome (human) |
RGD |
PMID:31063269 |
RGD:150429622 |
NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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Rac1 |
Rac family small GTPase 1 |
exacerbates |
ISO |
protein:increased expression:nasopharynx (human) |
RGD |
PMID:19506399 |
RGD:153350125 |
NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
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Rad52 |
RAD52 homolog, DNA repair protein |
severity |
ISO |
protein:increased expression:nasopharynx (human) |
RGD |
PMID:25026830 |
RGD:151361208 |
NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207
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G |
Snrpd1 |
small nuclear ribonucleoprotein D1 polypeptide |
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ISO |
mRNA:increased expression:nasopharynx (human) |
RGD |
PMID:24080422 |
RGD:10755709 |
NCBI chr18:1,696,838...1,707,400
Ensembl chr18:1,696,852...1,708,256
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G |
Snrpe |
small nuclear ribonucleoprotein polypeptide E |
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ISO |
mRNA:increased expression:nasopharynx (human) |
RGD |
PMID:24080422 |
RGD:10755709 |
NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310 Ensembl chr 8:45,050,986...45,057,310
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Snrpf |
small nuclear ribonucleoprotein polypeptide F |
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ISO |
mRNA:increased expression:nasopharynx (human) |
RGD |
PMID:24080422 |
RGD:10755709 |
NCBI chr 7:28,130,427...28,137,129
Ensembl chr 7:28,130,427...28,137,129
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G |
Snrpg |
small nuclear ribonucleoprotein polypeptide G |
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ISO |
mRNA:increased expression:nasopharynx (human) |
RGD |
PMID:24080422 |
RGD:10755709 |
NCBI chr 4:118,812,278...118,819,827
Ensembl chr 4:118,812,252...118,819,826
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Spen |
spen family transcriptional repressor |
disease_progression |
ISO |
protein:increased expression:mucosa of nasopharynx (human) |
RGD |
PMID:32641685 |
RGD:151347437 |
NCBI chr 5:153,775,287...153,848,677
Ensembl chr 5:153,776,234...153,848,811
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Src |
SRC proto-oncogene, non-receptor tyrosine kinase |
disease_progression |
ISO |
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RGD |
PMID:27078847 |
RGD:150521726 |
NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
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Stat3 |
signal transducer and activator of transcription 3 |
severity |
ISO |
protein:increased expression:mucosa of nasopharynx (human) |
RGD |
PMID:30123088 |
RGD:149735327 |
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tert |
telomerase reverse transcriptase |
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ISO |
protein:increased expression:nasopharynx |
RGD |
PMID:26621837 |
RGD:11564613 |
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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G |
Tet2 |
tet methylcytosine dioxygenase 2 |
severity |
ISO |
human cells in mouse model |
RGD |
PMID:32774157 |
RGD:150429610 |
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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G |
Tnfaip3 |
TNF alpha induced protein 3 |
treatment |
ISO |
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RGD |
PMID:26149137 |
RGD:151347434 |
NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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G |
Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Nasopharyngeal carcinoma |
ClinVar OMIM RGD |
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1631151 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8308926 PMID:8344492 PMID:8401536 PMID:8423216 PMID:8464896 PMID:8550239 PMID:8633021 PMID:8649776 PMID:8718514 PMID:8825920 PMID:9047394 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9607760 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9891044 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10589545 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10922393 PMID:11101847 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11479205 PMID:11782540 PMID:11793474 PMID:12007217 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14743206 PMID:15004724 PMID:15037740 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16199549 PMID:16258005 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16551709 PMID:16682957 PMID:16818505 PMID:16861262 PMID:16964264 PMID:17015838 PMID:17311302 PMID:17535973 PMID:17540308 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:18307025 PMID:18391940 PMID:18511570 PMID:18555592 PMID:19101993 PMID:19127115 PMID:19367569 PMID:19454241 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19881536 PMID:20028212 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20586629 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21113594 PMID:21118481 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21672450 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22915647 PMID:22923379 PMID:22999923 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23484829 PMID:23538418 PMID:23624782 PMID:23630318 PMID:23792586 PMID:23887774 PMID:24033266 PMID:24065105 PMID:24122735 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24810334 PMID:24835218 PMID:25059482 PMID:25157968 PMID:25256166 PMID:25404506 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25765855 PMID:25787918 PMID:25896519 PMID:25927356 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26467025 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26786923 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27146902 PMID:27153395 PMID:27189670 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28279309 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28664506 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29070607 PMID:29300620 PMID:29478780 PMID:29489754 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31105275 PMID:31321604 PMID:31775759 PMID:31882575 PMID:31983162 PMID:32000721 PMID:32156018 PMID:32475984 PMID:32817165 PMID:32888145 PMID:32906206 PMID:33087929 PMID:33163847 PMID:33245408 PMID:33257846 PMID:33372952 PMID:33471991 PMID:33840814 PMID:34088725 PMID:34503094 PMID:34529667 PMID:34709361 PMID:35043155 PMID:35802772 PMID:35974385 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 PMID:9929165 More...
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RGD:8547825 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Vegfa |
vascular endothelial growth factor A |
disease_progression severity |
ISO |
protein:increased expression:mucosa of nasopharynx (human) protein:increased expression:nasopharynx (human) |
RGD |
PMID:16480593 PMID:30123088 PMID:23631129 |
RGD:126925191, RGD:149735327, RGD:153305949 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Wrap53 |
WD repeat containing, antisense to TP53 |
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ISO |
associated with Epstein-Barr Virus Infections; protein:increased expression:nasopharynx epithelium |
RGD |
PMID:28607398 |
RGD:21081524 |
NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
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G |
Xrcc1 |
X-ray repair cross complementing 1 |
treatment sexual_dimorphism susceptibility |
ISO |
DNA:SNP:3'utr: (rs25489) (human) DNA:missense mutation:cds: p.R194W (human) associated with Tobacco Use Disorder; DNA:missense mutation:cds: p.R399Q (human) DNA:missense mutation:exon 10: p.R399Q G>A, (rs25487) (human) |
RGD |
PMID:29108254 PMID:16796765 PMID:27356695 PMID:24175791 PMID:17630853 |
RGD:150530619, RGD:150573694, RGD:150573697, RGD:150573698, RGD:150573708 |
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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G |
Dmbt1 |
deleted in malignant brain tumors 1 |
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IEP |
mRNA, Protein:increased expression |
RGD |
PMID:12419858 |
RGD:1599782 |
NCBI chr 1:185,617,469...185,696,476
Ensembl chr 1:185,617,294...185,696,478
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G |
Mmp2 |
matrix metallopeptidase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16178123 |
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NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Anxa1 |
annexin A1 |
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ISO |
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RGD |
PMID:20970165 |
RGD:7421559 |
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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G |
Anxa2 |
annexin A2 |
disease_progression |
ISO |
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RGD |
PMID:20970165 |
RGD:7421559 |
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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G |
Tp53 |
tumor protein p53 |
treatment |
ISO |
DNA:mutations:cds: |
RGD |
PMID:22575263 PMID:23369851 |
RGD:8547763, RGD:8547764 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Ggt1 |
gamma-glutamyltransferase 1 |
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ISO |
protein:increased activity:blood: |
RGD |
PMID:1680936 |
RGD:14747017 |
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
protein:decreased expression:serum |
RGD |
PMID:19725899 |
RGD:5686851 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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G |
Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19389874 |
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NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Alox5ap |
arachidonate 5-lipoxygenase activating protein |
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ISO |
protein:increased expression:nasal turbinate |
RGD |
PMID:19364335 |
RGD:5147461 |
NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
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G |
Cat |
catalase |
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ISO |
protein:decreased expression:plasma |
RGD |
PMID:20493834 |
RGD:5130771 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
protein:increased expression:nasal turbinate, mucosa (human) |
RGD |
PMID:9865755 |
RGD:8548839 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
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ISO |
mRNA:increased expression:Nasal Mucosa |
RGD |
PMID:17982926 |
RGD:4145109 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
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ISO |
mRNA:increased expression:nasal mucosa (human) |
RGD |
PMID:17982926 |
RGD:4145109 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:20226305 |
RGD:5132269 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd86 |
CD86 molecule |
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ISO |
protein:increased expression:nasal mucosa, dendritic cell (human) |
RGD |
PMID:17088138 |
RGD:4892343 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Chia |
chitinase, acidic |
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ISO |
mRNA, protein:increased expression:turbinate, mucosa (human) |
RGD |
PMID:20422678 |
RGD:5037226 |
NCBI chr 2:193,614,374...193,656,532
Ensembl chr 2:193,614,114...193,656,533
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Egr1 |
early growth response 1 |
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ISO |
DNA:snp:5' utr:g.-4071A>G rs7729723 (human) |
RGD |
PMID:19833116 |
RGD:5131984 |
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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G |
F2rl1 |
F2R like trypsin receptor 1 |
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ISO |
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RGD |
PMID:17727088 |
RGD:4892590 |
NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226
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G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:polymorphism:exon:p.I105V (rs1695) (human) |
RGD |
PMID:17181111 |
RGD:4142523 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Hmox1 |
heme oxygenase 1 |
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ISO |
mRNA, protein:increased expression: nasal mucosa |
RGD |
PMID:16540907 |
RGD:4145406 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Icam1 |
intercellular adhesion molecule 1 |
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ISO |
protein:increased expression:lung, endothelium (mouse) protein:increased secretion:nasopharynx (human) |
RGD |
PMID:19968652 PMID:19047814 |
RGD:4145464, RGD:4145520 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ifngr1 |
interferon gamma receptor 1 |
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ISO |
DNA: SNP: Leu467Pro |
RGD |
PMID:12851715 |
RGD:6480431 |
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
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Il13 |
interleukin 13 |
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ISO |
mRNA, protein:increased expression:nasal mucosa |
RGD |
PMID:8520776 |
RGD:4782826 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il17a |
interleukin 17A |
severity |
ISO |
protein:increased expression:serum |
RGD |
PMID:19226302 |
RGD:4889151 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il18 |
interleukin 18 |
susceptibility |
ISO |
DNA:SNP:promoter:c. -607A>C (rs1946518) (human) |
RGD |
PMID:16406079 |
RGD:4889924 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1a |
interleukin 1 alpha |
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ISO |
DNA:polymorphism:exon:c.4845G>T (human) |
RGD |
PMID:14533660 |
RGD:4142859 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1r1 |
interleukin 1 receptor type 1 |
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ISO |
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RGD |
PMID:18637763 |
RGD:5037238 |
NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
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G |
Il2 |
interleukin 2 |
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ISO |
protein:decreased expression:serum: |
RGD |
PMID:17608155 |
RGD:8662959 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il4 |
interleukin 4 |
treatment |
ISO |
protein:increased expression:serum |
RGD |
PMID:21171297 PMID:9237816 PMID:15329007 |
RGD:5128559, RGD:7829817, RGD:7829804 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il5 |
interleukin 5 |
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ISO |
protein: increased levels: sputum |
RGD |
PMID:22186238 |
RGD:5687140 |
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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G |
Mmp2 |
matrix metallopeptidase 2 |
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ISO |
protein:increased expression:nasal mucosa: |
RGD |
PMID:19786210 |
RGD:5130872 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9 |
matrix metallopeptidase 9 |
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ISO |
protein:increased expression:nasal mucosa: |
RGD |
PMID:19786210 |
RGD:5130872 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nos2 |
nitric oxide synthase 2 |
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ISO |
protein:increased expression:nasal mucosa |
RGD |
PMID:14587983 |
RGD:4892078 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3 |
nitric oxide synthase 3 |
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ISO |
DNA:snp:promoter:g.-786T>C (human) |
RGD |
PMID:18086269 |
RGD:4892054 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
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ISO |
protein:altered expression:nasal mucosa |
RGD |
PMID:20185258 |
RGD:4892593 |
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Pparg |
peroxisome proliferator-activated receptor gamma |
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ISO |
mRNA, protein:increased expression:nasal mucosa (human) |
RGD |
PMID:17116814 |
RGD:8552811 |
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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G |
Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
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ISO |
protein:increased expression:respiratory system epithelium |
RGD |
PMID:19364335 |
RGD:5147461 |
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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Tbxa2r |
thromboxane A2 receptor |
treatment |
ISO |
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RGD |
PMID:15247523 |
RGD:11059532 |
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
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Myh14 |
myosin heavy chain 14 |
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ISO |
ClinVar Annotator: match by term: Peripheral neuropathy, myopathy, hoarseness, and hearing loss |
OMIM ClinVar |
PMID:15015131 PMID:21480433 PMID:23806086 PMID:24033266 PMID:24088041 PMID:25741868 PMID:26257172 PMID:26346818 PMID:26467025 PMID:26752647 PMID:27393652 PMID:27911912 PMID:28492532 PMID:30311386 PMID:31231018 PMID:35274842 More...
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NCBI chr 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836
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Adam33 |
ADAM metallopeptidase domain 33 |
susceptibility |
ISO |
DNA:SNPs: :multiple (human) |
RGD |
PMID:18778489 PMID:15298558 |
RGD:4145378, RGD:4145383 |
NCBI chr 3:118,262,395...118,283,456
Ensembl chr 3:118,271,029...118,283,461
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Ang |
angiogenin |
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ISO |
protein:increased expression:sputum |
RGD |
PMID:19178538 |
RGD:6892723 |
NCBI chr15:24,312,711...24,323,361
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G |
Bdkrb1 |
bradykinin receptor B1 |
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ISO |
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RGD |
PMID:12165532 |
RGD:5129220 |
NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
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Bdkrb2 |
bradykinin receptor B2 |
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ISO |
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RGD |
PMID:1890650 PMID:11149999 |
RGD:4891044, RGD:4891033 |
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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Bdnf |
brain-derived neurotrophic factor |
susceptibility |
IEP ISO |
mRNA:increased expression:nasal cavity epithelium DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human) |
RGD |
PMID:20464992 PMID:21723144 |
RGD:4891116, RGD:8655967 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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C3 |
complement C3 |
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ISO IEP |
mRNA:increased expression:nasal cavity epithelium |
RGD |
PMID:20109314 PMID:17345707 |
RGD:5129539, RGD:5129524 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
C3ar1 |
complement C3a receptor 1 |
severity |
ISO |
protein:increased expression:nasal cavity |
RGD |
PMID:18538384 |
RGD:5129559 |
NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
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G |
C5ar1 |
complement C5a receptor 1 |
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ISO |
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RGD |
PMID:18538384 |
RGD:5129559 |
NCBI chr 1:76,948,622...76,959,826
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G |
Casp1 |
caspase 1 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:12396474 PMID:20974310 |
RGD:5130192, RGD:5130187 |
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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G |
Cat |
catalase |
treatment |
ISO |
protein:increased activity:blood,nasal cavity mucosa: |
RGD |
PMID:21541033 |
RGD:9479054 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Ccl1 |
C-C motif chemokine ligand 1 |
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ISO |
mRNA:increased expression:nasal cavity epithelium |
RGD |
PMID:17982926 |
RGD:4145109 |
NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
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Ccl11 |
C-C motif chemokine ligand 11 |
severity |
ISO IEP |
associated with Sinusitis;protein:increased expression:paranasal sinus protein:increased expression:nasal mucus mRNA:increased expression:lung, nose |
RGD |
PMID:17999785 PMID:16120080 PMID:16765544 |
RGD:4145455, RGD:4145411, RGD:4145462 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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G |
Ccl17 |
C-C motif chemokine ligand 17 |
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ISO |
protein:increased expression:blood, mononuclear cell |
RGD |
PMID:17517104 |
RGD:4145498 |
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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G |
Ccl19 |
C-C motif chemokine ligand 19 |
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ISO |
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RGD |
PMID:17947663 |
RGD:5130909 |
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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|
G |
Ccl22 |
C-C motif chemokine ligand 22 |
|
ISO |
protein:increased expression:blood, mononuclear cell |
RGD |
PMID:17517104 |
RGD:4145498 |
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
|
|
G |
Ccl24 |
C-C motif chemokine ligand 24 |
|
ISO |
mRNA:increased expression:nasal cavity epithelium DNA:SNPs: :179T>C, 275C>T (human) |
RGD |
PMID:17982926 PMID:15580493 |
RGD:4145109, RGD:4891493 |
NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893
|
|
G |
Ccl26 |
C-C motif chemokine ligand 26 |
|
ISO |
DNA:polymorphism: :2497T>G (human) associated with Eosinophilia;protein:increased expression:oronasal secretion (human) |
RGD |
PMID:15580493 PMID:24989688 |
RGD:4891493, RGD:11531119 |
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
|
|
G |
Ccl4 |
C-C motif chemokine ligand 4 |
|
ISO |
|
RGD |
PMID:19786211 |
RGD:5130914 |
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
|
|
G |
Ccl7 |
C-C motif chemokine ligand 7 |
|
ISO |
|
RGD |
PMID:17982926 |
RGD:4145109 |
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
|
|
G |
Ccr2 |
C-C motif chemokine receptor 2 |
susceptibility |
ISO |
Rhinitis, Allergic, Seasonal; DNA:SNP:cds:p.V64I (human) |
RGD |
PMID:17135764 |
RGD:4145111 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
|
|
G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO IEP |
DNA:SNP:exon:51T>C (human) protein:increased expression:blood, T cell mRNA:increased expression:nose |
RGD |
PMID:17135764 PMID:17156343 PMID:20696593 |
RGD:4145111, RGD:4145645, RGD:4145454 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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|
G |
Cd14 |
CD14 molecule |
susceptibility resistance |
ISO |
DNA:polymorphism:promoter:c. -159c>T (human) |
RGD |
PMID:20109306 PMID:16950285 |
RGD:4144795, RGD:4144810 |
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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|
G |
Cd28 |
Cd28 molecule |
|
ISO |
|
RGD |
PMID:21356099 |
RGD:5131612 |
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
|
|
G |
Cd80 |
Cd80 molecule |
|
ISO |
|
RGD |
PMID:21108691 |
RGD:5132622 |
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
|
|
G |
Cdc42 |
cell division cycle 42 |
|
ISO |
mRNA:increased expression:nasal turbinate |
RGD |
PMID:19432938 |
RGD:5688273 |
NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
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|
G |
Cftr |
CF transmembrane conductance regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16083808 |
|
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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|
G |
Crhr1 |
corticotropin releasing hormone receptor 1 |
|
ISO |
mRNA, protein:increased expression:nasal cavity epithelium |
RGD |
PMID:17597629 |
RGD:5130940 |
NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
|
|
G |
Crhr2 |
corticotropin releasing hormone receptor 2 |
|
ISO |
mRNA, protein:increased expression:nasal cavity epithelium |
RGD |
PMID:17597629 |
RGD:5130940 |
NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
|
|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
protein:increased expression:T cell |
RGD |
PMID:17625281 |
RGD:4891512 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
|
|
G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:14657873 |
RGD:4891906 |
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
|
|
G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
|
ISO |
protein:increased expression:nasal mucus |
RGD |
PMID:20659080 |
RGD:4892030 |
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
|
|
G |
Cyp2d4 |
cytochrome P450, family 2, subfamily d, polypeptide 4 |
|
ISO |
DNA:SNP:3' utr:*1934G>A (human) |
RGD |
PMID:20088379 |
RGD:5143945 |
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
|
|
G |
Cysltr1 |
cysteinyl leukotriene receptor 1 |
|
ISO |
associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium |
RGD |
PMID:17627772 PMID:16689996 PMID:15379985 PMID:18946234 |
RGD:4781451, RGD:4783198, RGD:4847512, RGD:4888516 |
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
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|
G |
Cysltr2 |
cysteinyl leukotriene receptor 2 |
|
ISO |
associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium |
RGD |
PMID:16689996 |
RGD:4783198 |
NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
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|
G |
Fcer1a |
Fc epsilon receptor Ia |
|
ISO |
|
RGD |
PMID:20650300 |
RGD:5128714 |
NCBI chr13:85,686,099...85,692,394
Ensembl chr13:85,686,092...85,692,351
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G |
Fis1 |
fission, mitochondrial 1 |
|
IEP |
mRNA, protein:increased expression:nasal cavity mucosa (rat) |
RGD |
PMID:28146064 |
RGD:13204839 |
NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377
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|
G |
Hdc |
histidine decarboxylase |
|
ISO IEP |
DNA:SNP: :p.E644D (rs2073440) (human) |
RGD |
PMID:20608921 PMID:15054596 |
RGD:5128884, RGD:5143921 |
NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341
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|
G |
Hnmt |
histamine N-methyltransferase |
no_association |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17651147 PMID:17651147 |
RGD:5128885 |
NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
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|
G |
Hrh1 |
histamine receptor H 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12167471 |
|
NCBI chr 4:147,564,963...147,649,353
Ensembl chr 4:147,645,995...147,647,455
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G |
Il13 |
interleukin 13 |
susceptibility disease_progression |
ISO IEP |
associated with asthma; DNA:polymorphisms:promoter:c. -1510A>C, -1055C>T (human) mRNA:increased expression:nose DNA:polymorphism: :rs1800925 (human) |
RGD |
PMID:16120094 PMID:20358028 PMID:20696593 PMID:17088137 PMID:20484924 |
RGD:4206706, RGD:4145767, RGD:4145454, RGD:4159171, RGD:4145534 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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|
G |
Il13ra2 |
interleukin 13 receptor subunit alpha 2 |
|
ISO |
|
RGD |
PMID:17088137 |
RGD:4159171 |
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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|
G |
Il15 |
interleukin 15 |
|
ISO |
|
RGD |
PMID:16750998 |
RGD:5000756 |
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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|
G |
Il16 |
interleukin 16 |
|
ISO |
protein:increased expression:serum protein:increased expression:nasal cavity epithelium, serum |
RGD |
PMID:18254318 PMID:19295235 |
RGD:5024932, RGD:5024931 |
NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
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|
G |
Il17a |
interleukin 17A |
|
ISO |
protein:increased expression:nasal mucosa |
RGD |
PMID:20506642 PMID:19927541 |
RGD:4889137, RGD:4889144 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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|
G |
Il18 |
interleukin 18 |
disease_progression |
ISO |
protein:increased expression:nasal lavage fluid, bronchoalveolar lavage fluid rhinitis allergic, seasonal; protein:increased expression:plasma protein:increased expression:serum |
RGD |
PMID:17305282 PMID:15934281 PMID:17323858 |
RGD:4889917, RGD:4889927, RGD:4889916 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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|
G |
Il1b |
interleukin 1 beta |
susceptibility |
IEP ISO |
mRNA:increased expression:nasal cavity epithelium associated with Hypersensitivity;DNA:polymorphism: :-511C>T (human) associated with Hypersensitivity;protein:increased expression:nasal mucus |
RGD |
PMID:20490816 PMID:14533660 PMID:10224452 |
RGD:4142821, RGD:4142859, RGD:4143227 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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|
G |
Il1rl1 |
interleukin 1 receptor-like 1 |
severity |
ISO |
associated with Sinusitis;DNA:SNPs: :multiple (human) |
RGD |
PMID:19671251 |
RGD:5144228 |
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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|
G |
Il1rn |
interleukin 1 receptor antagonist |
susceptibility |
ISO |
associated with Hypersensitivity;DNA:repeat:intron (human) |
RGD |
PMID:14533660 PMID:15178892 PMID:10224452 |
RGD:4142859, RGD:4143215, RGD:4143227 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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|
G |
Il2 |
interleukin 2 |
susceptibility |
ISO |
DNA:SNP:promoter:rs2069762(human) |
RGD |
PMID:16333313 |
RGD:8663473 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
|
|
G |
Il21 |
interleukin 21 |
|
ISO |
|
RGD |
PMID:17982108 |
RGD:5147397 |
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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|
G |
Il22 |
interleukin 22 |
severity |
ISO |
mRNA:increased expression:blood, mononuclear cell |
RGD |
PMID:21535180 |
RGD:5147409 |
NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186
|
|
G |
Il23r |
interleukin 23 receptor |
susceptibility |
ISO |
DNA:SNP,haplotype: :rs7517847(human) |
RGD |
PMID:23696856 |
RGD:8549605 |
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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|
G |
Il27ra |
interleukin 27 receptor subunit alpha |
|
ISO |
|
RGD |
PMID:19354069 |
RGD:5128480 |
NCBI chr19:24,109,963...24,121,977
Ensembl chr19:24,109,972...24,121,938
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|
G |
Il4 |
interleukin 4 |
|
ISO IEP |
mRNA:increased expression:nasal cavity epithelium CTD Direct Evidence: marker/mechanism protein:increased expression:serum |
CTD RGD |
PMID:19672097 PMID:21208219 PMID:18826099 |
RGD:5128558, RGD:2317285 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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|
G |
Il4r |
interleukin 4 receptor |
|
ISO |
DNA:polymorphism: :c.1432T>C (human) |
RGD |
PMID:15564773 |
RGD:4890394 |
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
|
|
G |
Il5 |
interleukin 5 |
|
ISO |
|
RGD |
PMID:11884474 |
RGD:5128622 |
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
|
|
G |
Il9 |
interleukin 9 |
|
ISO |
|
RGD |
PMID:20525149 |
RGD:5128687 |
NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
|
|
G |
Lep |
leptin |
|
ISO |
|
RGD |
PMID:19860581 |
RGD:5128850 |
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
|
|
G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
DNA:polymorphism: : |
RGD |
PMID:18831943 |
RGD:8693717 |
NCBI chr 1:228,016,439...228,024,736
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|
G |
Mfn1 |
mitofusin 1 |
|
IEP |
mRNA, protein:increased expression:nasal cavity mucosa (rat) |
RGD |
PMID:28146064 |
RGD:13204839 |
NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
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|
G |
Mif |
macrophage migration inhibitory factor |
severity |
ISO |
protein:increased expression:serum, nasal mucosa |
RGD |
PMID:15053202 PMID:15922619 |
RGD:4891045, RGD:4891056 |
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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|
G |
Ms4a2 |
membrane spanning 4-domains A2 |
|
ISO |
|
RGD |
PMID:15480314 |
RGD:5131152 |
NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310
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|
G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
|
IEP ISO |
mRNA:increased expression:nose |
RGD |
PMID:20696593 PMID:15715404 |
RGD:4145454, RGD:7364740 |
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
|
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G |
Ngf |
nerve growth factor |
|
ISO |
protein:increased expression:respiratory system fluid/secretion associated with Sinusitis;protein:increased expression:respiratory system mucosa |
RGD |
PMID:10224365 PMID:19958603 |
RGD:4891115, RGD:4891064 |
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
|
|
G |
Ngfr |
nerve growth factor receptor |
|
ISO |
protein:increased expression:blood, eosinophil |
RGD |
PMID:18647313 |
RGD:5144116 |
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
|
|
G |
Nod1 |
nucleotide-binding oligomerization domain containing 1 |
|
ISO |
mRNA:decreased expression:nose |
RGD |
PMID:20384614 |
RGD:5131446 |
NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404
|
|
G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
susceptibility |
ISO |
DNA:polymorphisms:cds:2104C>T,2722G>C (human) |
RGD |
PMID:12704363 |
RGD:5131484 |
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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|
G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
protein:increased expression:nasal mucosa |
RGD |
PMID:18254476 |
RGD:4891910 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
|
|
G |
Npy |
neuropeptide Y |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12746121 |
|
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
|
|
G |
Ntrk1 |
neurotrophic receptor tyrosine kinase 1 |
|
ISO |
protein:increased expression:eosinophil |
RGD |
PMID:18647313 |
RGD:5144116 |
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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|
G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
|
IEP |
mRNA, protein:increased expression:nasal cavity mucosa (rat) |
RGD |
PMID:28146064 |
RGD:13204839 |
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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|
G |
Plau |
plasminogen activator, urokinase |
|
ISO |
mRNA:increased expression:nasal cavity epithelium |
RGD |
PMID:21339035 |
RGD:8547809 |
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
|
|
G |
Ptgdr2 |
prostaglandin D2 receptor 2 |
|
ISO |
|
RGD |
PMID:19230460 PMID:19608418 |
RGD:5135021, RGD:5135017 |
NCBI chr 1:207,585,088...207,590,275
Ensembl chr 1:207,587,917...207,589,213
|
|
G |
RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
DNA:polymorphisms:cds:HLA-DQA1*0201, HLA-DQA1*0302 (human) |
RGD |
PMID:14990915 |
RGD:5147798 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
|
|
G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:polymorphism:cds:HLA-DQB1*0602 (human) |
RGD |
PMID:14990915 |
RGD:5147798 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
|
|
G |
Scgb3a2 |
secretoglobin, family 3A, member 2 |
|
ISO |
protein:increased expression:sputum mRNA,protein:decreased expression:nasal mucosa |
RGD |
PMID:17218572 PMID:21385388 |
RGD:5144232, RGD:5147389 |
NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762
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|
G |
Serpine1 |
serpin family E member 1 |
susceptibility |
ISO |
DNA:polymorphism:promoter:rs1799768 (human) |
RGD |
PMID:19063817 |
RGD:4144832 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
|
|
G |
Sftpd |
surfactant protein D |
susceptibility |
ISO |
associated with Hypersensitivity;DNA:polymorphism: :p.M11T (human) |
RGD |
PMID:19493231 |
RGD:4143494 |
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
|
|
G |
Tap1 |
transporter 1, ATP binding cassette subfamily B member |
susceptibility no_association |
ISO |
DNA:SNPs: : |
RGD |
PMID:17982230 PMID:12018331 |
RGD:6482262, RGD:6482274 |
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
|
|
G |
Tbxa2r |
thromboxane A2 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12167471 |
|
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
|
|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
associated with Sinusitis |
RGD |
PMID:18423831 |
RGD:4145277 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
|
|
G |
Tlr2 |
toll-like receptor 2 |
susceptibility no_association |
ISO |
DNA:SNPs: :597T>C, 1350T>C (human) mRNA:decreased expression:nasal mucosa: associated with Sinusitis;DNA:SNPs: :multiple (human) |
RGD |
PMID:19763595 PMID:18219831 PMID:19128592 |
RGD:4145354, RGD:7800742, RGD:4145356 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
|
|
G |
Tlr6 |
toll-like receptor 6 |
|
ISO |
associated with Asthma;DNA:SNP: :rs2381289 (human) |
RGD |
PMID:20815312 |
RGD:4145352 |
NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO IEP |
mRNA:increased expression:nose |
RGD |
PMID:15120189 PMID:20696593 |
RGD:4143470, RGD:4145454 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
protein:increased expression:sputum |
RGD |
PMID:19178538 |
RGD:6892723 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Vip |
vasoactive intestinal peptide |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12746121 PMID:14680090 |
|
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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G |
RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
DNA:haplotype: : |
RGD |
PMID:17321882 |
RGD:8547664 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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|
G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:haplotype: : |
RGD |
PMID:17321882 |
RGD:8547664 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
Anxa1 |
annexin A1 |
|
ISO |
associated with Nasal Polyps |
RGD |
PMID:22279949 |
RGD:7421555 |
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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|
G |
C3 |
complement C3 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:19593977 |
RGD:4889484 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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|
G |
C4a |
complement C4A |
disease_progression |
ISO |
DNA:deletion: : |
RGD |
PMID:16879240 |
RGD:5688262 |
NCBI chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080
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G |
Ccl20 |
C-C motif chemokine ligand 20 |
|
ISO |
|
RGD |
PMID:16702571 |
RGD:7483585 |
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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G |
Hgf |
hepatocyte growth factor |
susceptibility |
ISO |
DNA:haplotype::rs38850,rs38855,rs38857(human) |
RGD |
PMID:20416453 |
RGD:8548615 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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|
G |
Igf1 |
insulin-like growth factor 1 |
|
ISO |
mRNA:increased expression:nose: |
RGD |
PMID:20713758 |
RGD:8548883 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Il10 |
interleukin 10 |
|
ISO |
protein:decreased expression:blood, mononuclear cell |
RGD |
PMID:23168151 |
RGD:7364820 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il17a |
interleukin 17A |
|
ISO |
associated with Asthma;mRNA, protein:increased expression:nasal polyps (human) |
RGD |
PMID:19672092 |
RGD:4889146 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il1b |
interleukin 1 beta |
|
ISO |
protein:increased expression:nasal cavity epithelium |
RGD |
PMID:11197112 |
RGD:7401169 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il22ra1 |
interleukin 22 receptor subunit alpha 1 |
susceptibility |
ISO |
DNA:SNPs:5' utr, intron: (rs4292900, rs16829225, rs4648936) (human) |
RGD |
PMID:19393422 |
RGD:5147411 |
NCBI chr 5:147,961,496...147,986,296
Ensembl chr 5:147,961,349...147,986,296
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|
G |
Il4 |
interleukin 4 |
treatment |
ISO |
associated with Asthma |
RGD |
PMID:12787306 |
RGD:7829803 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
|
RGD |
PMID:23401274 |
RGD:8547880 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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|
G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
treatment |
IDA |
|
RGD |
PMID:23131200 PMID:19389874 |
RGD:7349403, RGD:7364734 |
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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|
G |
Prkra |
protein activator of interferon induced protein kinase EIF2AK2 |
severity |
ISO |
associated with Nasal Polyps |
RGD |
PMID:22961479 |
RGD:7777146 |
NCBI chr 3:61,575,447...61,594,393
Ensembl chr 3:61,575,447...61,594,347
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G |
Serpine1 |
serpin family E member 1 |
|
ISO |
protein:increased expression:nasal mucosa (human) |
RGD |
PMID:21711960 |
RGD:6483796 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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|
G |
Tlr2 |
toll-like receptor 2 |
susceptibility |
ISO |
mRNA,protein:increased expression:paranasal sinus DNA:polymorphisms:: rs3804099,rs3804100(human) |
RGD |
PMID:22182736 PMID:21493395 |
RGD:7800733, RGD:8552975 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
mRNA,protein:increased expression:paranasal sinus |
RGD |
PMID:22182736 |
RGD:7800733 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased expression:nasal cavity epithelium |
RGD |
PMID:11197112 PMID:20147558 |
RGD:7401169, RGD:7401236 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
RT1-Bb |
RT1 class II, locus Bb |
|
ISO |
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0302 (human) |
RGD |
PMID:15577839 |
RGD:5147654 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
Alox5 |
arachidonate 5-lipoxygenase |
|
ISO |
|
RGD |
PMID:16677242 |
RGD:5147463 |
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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G |
Apoa4 |
apolipoprotein A4 |
resistance |
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:20810159 |
RGD:5685642 |
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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G |
Bdnf |
brain-derived neurotrophic factor |
severity |
ISO |
protein:increased expression:blood, nasal cavity epithelium |
RGD |
PMID:18266897 |
RGD:5144117 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO |
protein:increased expression:inferior turbinate, epithelium (human) |
RGD |
PMID:20459697 |
RGD:4891379 |
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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G |
Cma1 |
chymase 1 |
|
ISO |
protein:increased expression:nasal mucosa, mast cell (human) |
RGD |
PMID:11549546 |
RGD:5128839 |
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
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G |
Fga |
fibrinogen alpha chain |
|
ISO |
|
RGD |
PMID:21887273 |
RGD:5688767 |
NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
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|
G |
Gsto1 |
glutathione S-transferase omega 1 |
|
ISO |
protein:decreased expression;T lymphocyte: |
RGD |
PMID:21410266 |
RGD:5491008 |
NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
protein:increased secretion:nasopharynx, secretion (human) |
RGD |
PMID:20128420 |
RGD:4145459 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Ifngr1 |
interferon gamma receptor 1 |
|
ISO |
DNA: SNP: Leu467Pro |
RGD |
PMID:12851715 |
RGD:6480431 |
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
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G |
Il10 |
interleukin 10 |
treatment |
ISO |
|
RGD |
PMID:19505388 |
RGD:7365025 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il18 |
interleukin 18 |
susceptibility no_association |
ISO |
DNA:SNPs:promoters, exon:multiple DNA:SNPs:promoters:multiple |
RGD |
PMID:12532106 PMID:12532106 |
RGD:8655871, RGD:8655871 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il4 |
interleukin 4 |
|
ISO |
protein:increased expression:serum mRNA:increased expression:nose: |
RGD |
PMID:9237816 PMID:7551298 |
RGD:7829817, RGD:8662960 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Kdr |
kinase insert domain receptor |
|
ISO |
protein:increased expression:nasal cavity of mucosa: |
RGD |
PMID:17651148 |
RGD:8551771 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Mc1r |
melanocortin 1 receptor |
no_association |
ISO |
|
RGD |
PMID:20357480 |
RGD:5687317 |
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
DNA:SNPs:promoter, intron, cds:-1590C>T, 2127G>T, p.R668Q (rs3918242, rs2274755, rs17577) (human) |
RGD |
PMID:22237587 |
RGD:8547819 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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|
G |
Nod1 |
nucleotide-binding oligomerization domain containing 1 |
susceptibility |
ISO |
DNA:SNP: :rs2075817 (human) |
RGD |
PMID:16918516 |
RGD:5131519 |
NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
susceptibility |
ISO |
DNA:polymorphisms:5'UTR/exon, exon:rs5743266, rs2066842 (human) |
RGD |
PMID:16008671 |
RGD:5131477 |
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
|
ISO |
protein:increased expression:respiratory system epithelium |
RGD |
PMID:19364335 |
RGD:5147461 |
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:polymorphism:cds:HLA-DQB1*05 (human) DNA:polymorphisms, haplotype:cds:HLA-DQB1*0301, HLA-DQB1*0501 (human) |
RGD |
PMID:22032123 PMID:9641569 |
RGD:7421561, RGD:7421576 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
Scgb1a1 |
secretoglobin family 1A member 1 |
|
ISO |
mRNA, protein:decreased expression:nasal lavage fluid |
RGD |
PMID:15836756 |
RGD:5144234 |
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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G |
Tlr3 |
toll-like receptor 3 |
|
ISO |
protein:decreased expression:bone marrow, blood, eosinophil (human) |
RGD |
PMID:19752565 |
RGD:5129130 |
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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G |
Tlr4 |
toll-like receptor 4 |
susceptibility |
ISO |
DNA:polymorphisms:cds:p.D299G, T399I (human) |
RGD |
PMID:18517079 |
RGD:4144192 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
mRNA,protein:increased expression:nasal biopsies,nasal lavage fluid: |
RGD |
PMID:12633568 |
RGD:7483595 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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|
G |
Maml3 |
mastermind-like transcriptional coactivator 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859338 |
|
NCBI chr 2:135,720,431...136,137,829
Ensembl chr 2:135,721,021...136,137,814
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G |
Pax3 |
paired box 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859338 |
|
NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
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|
G |
Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
|
ISO |
|
RGD |
PMID:30120966 |
RGD:127285653 |
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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|
|
G |
Azgp1 |
alpha-2-glycoprotein 1, zinc-binding |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18391768 |
|
NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
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|
G |
Ccl4 |
C-C motif chemokine ligand 4 |
|
ISO |
|
RGD |
PMID:19786211 |
RGD:5130914 |
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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G |
Cfb |
complement factor B |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:14510109 |
RGD:7411729 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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|
G |
Cftr |
CF transmembrane conductance regulator |
susceptibility |
ISO |
DNA:mutations: : CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16083808 PMID:11773581 |
RGD:4140477 |
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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G |
Chia |
chitinase, acidic |
severity |
ISO |
mRNA:decreased expression:sinus, epithelial cell (human) |
RGD |
PMID:19379605 |
RGD:5037227 |
NCBI chr 2:193,614,374...193,656,532
Ensembl chr 2:193,614,114...193,656,533
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|
G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
|
ISO |
associated with Rhinitis;mRNA:increased expression:paranasal sinus |
RGD |
PMID:19153309 |
RGD:5135257 |
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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G |
Il13 |
interleukin 13 |
susceptibility |
ISO |
associated with asthma; DNA:polymorphisms:promoter:c. -1510A>C, -1055C>T (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20358028 PMID:20358028 |
RGD:4145767 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il1b |
interleukin 1 beta |
|
ISO |
associated with Hypersensitivity |
RGD |
PMID:16358839 |
RGD:4143214 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il2 |
interleukin 2 |
|
ISO |
|
RGD |
PMID:11758471 |
RGD:8662964 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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|
G |
Lta |
lymphotoxin alpha |
susceptibility |
ISO |
DNA:polymorphism: : |
RGD |
PMID:11037831 |
RGD:4143260 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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|
G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18391768 |
|
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased expression:: |
RGD |
PMID:20392482 |
RGD:5130763 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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|
G |
Muc5b |
mucin 5B, oligomeric mucus/gel-forming |
|
ISO |
protein:increased secretion:sinus mucus |
RGD |
PMID:17063754 |
RGD:5131192 |
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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|
G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
|
ISO |
|
RGD |
PMID:18396779 |
RGD:4892328 |
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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|
G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO |
protein: increased expression: nasal cavity epithelium |
RGD |
PMID:21255638 |
RGD:6483060 |
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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|
G |
Pip |
prolactin induced protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18391768 |
|
NCBI chr 4:70,787,627...70,791,921
Ensembl chr 4:70,787,627...70,791,921
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|
G |
Plau |
plasminogen activator, urokinase |
|
ISO |
|
RGD |
PMID:21711960 |
RGD:6483796 |
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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|
G |
Plaur |
plasminogen activator, urokinase receptor |
|
ISO |
|
RGD |
PMID:21711960 |
RGD:6483796 |
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
|
|
G |
Ppp1r9b |
protein phosphatase 1, regulatory subunit 9B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18391768 |
|
NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083
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|
G |
Scgb3a2 |
secretoglobin, family 3A, member 2 |
|
ISO |
mRNA,protein:decreased expression:nasal mucosa |
RGD |
PMID:21385388 |
RGD:5147389 |
NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762
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|
G |
Sftpa1 |
surfactant protein A1 |
|
ISO |
associated with Cystic Fibrosis;mRNA:increased expression:respiratory system mucosa |
RGD |
PMID:17599561 |
RGD:4143506 |
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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|
G |
Sftpd |
surfactant protein D |
|
ISO |
associated with Cystic Fibrosis;mRNA:increased expression:respiratory system mucosa |
RGD |
PMID:17599561 |
RGD:4143506 |
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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|
G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
mRNA:increased expression:nasal cavity epithelium: |
RGD |
PMID:14743629 |
RGD:8552991 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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|
G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
associated with Pneumococal Infections; mRNA:increased expression:nasal cavity epithelium: |
RGD |
PMID:16301373 PMID:14743629 |
RGD:7800729, RGD:8552991 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
|
|
G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
Chronic Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human) Acute Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human) |
RGD |
PMID:17283572 PMID:18416964 |
RGD:5130870, RGD:5130708 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
treatment |
ISO |
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RGD |
PMID:27738609 |
RGD:12743605 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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G |
Tubb4a |
tubulin, beta 4A class IVa |
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ISO |
ClinVar Annotator: match by term: Torsion dystonia 4 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2358646 PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 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:26643067 PMID:28275661 PMID:28492532 PMID:28592043 PMID:28791129 PMID:28973395 PMID:30079973 PMID:31692161 More...
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NCBI chr 9:1,91 | |