RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Bronchial Hyperreactivity
Accession: DOID:9000772
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Definition: Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.
Synonyms: exact_synonym: Bronchial Hyperreactivities
primary_id: MESH:D016535
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Adam33
ADAM metallopeptidase domain 33
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17061022 PMID:15118671
RGD:1331525
NCBI chr 3:118,262,395...118,283,456
Ensembl chr 3:118,271,029...118,283,461
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Calca
calcitonin-related polypeptide alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15127121 PMID:16777450
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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Ccl11
C-C motif chemokine ligand 11
ISO
associated with Gastrointestinal Diseases
RGD
PMID:15236177
RGD:4145432
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Ccl12
C-C motif chemokine ligand 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12388339
NCBI chr10:67,070,230...67,071,780
Ensembl chr10:67,070,230...67,071,780
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12388339 PMID:19762564
RGD:4891460
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl7
C-C motif chemokine ligand 7
ISO
RGD
PMID:18490489
RGD:5130980
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:10438957
RGD:4145126
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Cd14
CD14 molecule
ISO
associated with asthma; DNA:polymorphism:promoter:c. -159C>T (human)
RGD
PMID:17196641
RGD:4144784
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
DNA:polymorphism:exon:49A>G (human)
RGD
PMID:12114354
RGD:4891522
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cxcl1
C-X-C motif chemokine ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12388339
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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Cxcl3
C-X-C motif chemokine ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12388339
NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
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Cysltr1
cysteinyl leukotriene receptor 1
ISO
associated with Respiratory Syncytial Virus Infections
RGD
PMID:16238585
RGD:4846883
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
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Dpp10
dipeptidyl peptidase like 10
ISO
RGD
PMID:19951440
RGD:4892274
NCBI chr13:34,584,420...36,269,292
Ensembl chr13:34,595,868...36,269,292
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Esr1
estrogen receptor 1
ISO
RGD
PMID:16522460
RGD:4892312
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Gata3
GATA binding protein 3
IEP
RGD
PMID:20118299
RGD:5128801
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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Hnmt
histamine N-methyltransferase
no_association
ISO
RGD
PMID:15693910
RGD:5128888
NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
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Icam1
intercellular adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17014439
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ifng
interferon gamma
IEP
mRNA:increased expression:lung:
RGD
PMID:8690457
RGD:10755761
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
ISO
RGD
PMID:20406594
RGD:4140467
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il13
interleukin 13
susceptibility
ISO
DNA:SNP:promoter:-1055C>T (human) associated with Eosinophilic enteropathy CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12654629 PMID:23434795 PMID:12669034 PMID:11588017 PMID:15236177
RGD:4761594 , RGD:4765128 , RGD:4145432
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il15
interleukin 15
ISO
RGD
PMID:18394133
RGD:4943853
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Il17a
interleukin 17A
ISO
protein:increased expression:sputum
RGD
PMID:12814161 PMID:20413629
RGD:4889115 , RGD:4888526
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
ISO
RGD
PMID:11766995
RGD:4889856
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il18rap
interleukin 18 receptor accessory protein
ISO
DNA:SNP: :rs1420106 (human)
RGD
PMID:18774397
RGD:5024946
NCBI chr 9:42,768,112...42,800,964
Ensembl chr 9:42,768,220...42,800,959
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Il1b
interleukin 1 beta
ISO
mRNA, protein:increased expression:lung
RGD
PMID:14754758
RGD:4143217
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rl1
interleukin 1 receptor-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32777237
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il1rn
interleukin 1 receptor antagonist
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:14754758 PMID:14754758
RGD:4143217
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:17920666
RGD:6892942
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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Il4r
interleukin 4 receptor
ISO
RGD
PMID:16890766
RGD:4890011
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il5
interleukin 5
treatment
ISO
RGD
PMID:9712797 PMID:10471622
RGD:4890961 , RGD:11354935
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Itgb3
integrin subunit beta 3
ISO
DNA:SNPs: :
RGD
PMID:15817799
RGD:5037231
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Mif
macrophage migration inhibitory factor
ISO
RGD
PMID:17373669
RGD:4891035
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504 Ensembl chr 4:12,790,902...12,799,504
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:19940022
RGD:5129522
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Ms4a2
membrane spanning 4-domains A2
susceptibility
ISO
DNA:polymorphism:CDS: E237G (human)
RGD
PMID:17430357
RGD:5131116
NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310
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Ngf
nerve growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22871964
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Nos1
nitric oxide synthase 1
ISO
protein:increased expression:lung
RGD
PMID:19286931
RGD:5132864
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Nos2
nitric oxide synthase 2
IEP ISO IMP
associated with reperfusion injury; mRNA:increased expression:lung protein:increased expression:lung protein:increased expression:lung, respiratory tract associated with Reperfusion Injury
RGD
PMID:20430162 PMID:19286931 PMID:11076311 PMID:17607157
RGD:4891490 , RGD:5132864 , RGD:4892083 , RGD:4891947
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
ISO
protein:decreased expression:lung
RGD
PMID:16714207 PMID:19286931
RGD:4892061 , RGD:5132864
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17508966
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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Scgb1a1
secretoglobin family 1A member 1
ISO
RGD
PMID:11597923
RGD:5144210
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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Selp
selectin P
ISO
atopy and bronchial hyperresponsiveness, OMIM:147050
RGD
PMID:12929084
RGD:1599904
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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Serpina1
serpin family A member 1
ISO
DNA:mutation:cds:c.321C>A(human)
RGD
PMID:28947017
RGD:14695046
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Sftpa1
surfactant protein A1
ISO
protein:decreased expression:lung
RGD
PMID:14748931
RGD:4143407
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Sftpb
surfactant protein B
ISO
protein:decreased expression:lung
RGD
PMID:14748931
RGD:4143407
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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Sftpc
surfactant protein C
ISO
protein:decreased expression:lung
RGD
PMID:14748931
RGD:4143407
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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Sftpd
surfactant protein D
ISO IDA
protein:increased expression:lung
RGD
PMID:14748931 PMID:12882759
RGD:4143407 , RGD:4144051
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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Tac1
tachykinin, precursor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16777450
NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
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Tacr1
tachykinin receptor 1
IMP ISO
RGD
PMID:18063836 PMID:15272104
RGD:5147833 , RGD:5147834
NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:20007931
RGD:4144229
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
ISO
associated with asthma; DNA:polymorphism:promoter: c. -308A>G (human)
RGD
PMID:17196641
RGD:4144784
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Trpa1
transient receptor potential cation channel, subfamily A, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19458046
NCBI chr 5:4,379,862...4,434,133
Ensembl chr 5:4,379,999...4,433,570
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Vip
vasoactive intestinal peptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15127121 PMID:15144609
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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