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: Pneumococcal Infections
Accession: DOID:9000989
browse the term
Definition: Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE.
Synonyms: exact_synonym: Pneumococcal Infection; Streptococcus pneumoniae Infection; Streptococcus pneumoniae Infections
primary_id: MESH:D011008
xref: EFO:0000772
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CFH
complement factor H
exacerbates
ISO IDA
RGD
PMID:26802141 PMID:26802141
RGD:108019050 , RGD:108019050
NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
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IL17A
interleukin 17A
susceptibility
IAGP
associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human)
RGD
PMID:20437253
RGD:4889139
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL27
interleukin 27
ISO
associated with influenza A;protein:increased expression:lung (mouse)
RGD
PMID:24408967
RGD:11556418
NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
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NFKBIA
NFKB inhibitor alpha
susceptibility
IAGP
DNA:SNPs:enhancers: (rs3138053, rs2233406) (human) DNA:SNP: :(rs1050851) (human)
RGD
PMID:17463416 PMID:29407193
RGD:127285388 , RGD:127285391
NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
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TIRAP
TIR domain containing adaptor protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17322885
NCBI chr11:126,283,093...126,294,933
Ensembl chr11:126,282,497...126,298,845
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TLR9
toll like receptor 9
ISO
RGD
PMID:17004992
RGD:5130710
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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ADAM17
ADAM metallopeptidase domain 17
treatment
ISO
RGD
PMID:24491581
RGD:13703038
NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
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AQP4
aquaporin 4
treatment
ISO
protein:increased expression:brain:
RGD
PMID:15695511 PMID:15695511
RGD:8698660 , RGD:8698660
NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
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ATM
ATM serine/threonine kinase
ameliorates
ISO
RGD
PMID:15529270
RGD:126781748
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102
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CAMP
cathelicidin antimicrobial peptide
ISO
protein:increased expression:brain, coronal section (rat)
RGD
PMID:19879657
RGD:2316237
NCBI chr 3:48,223,495...48,225,485
Ensembl chr 3:48,223,347...48,225,491
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CXCL1
C-X-C motif chemokine ligand 1
ISO
RGD
PMID:21109308
RGD:5134982
NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
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CYSLTR1
cysteinyl leukotriene receptor 1
disease_progression
ISO
mRNA, protein:increased expression:brain (rat)
RGD
PMID:31933824
RGD:40903068
NCBI chr X:78,271,468...78,327,611
Ensembl chr X:78,271,468...78,327,691
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CYSLTR2
cysteinyl leukotriene receptor 2
ISO
mRNA, protein:increased expression:brain (rat)
RGD
PMID:31933824
RGD:40903068
NCBI chr13:48,653,929...48,711,226
Ensembl chr13:48,653,711...48,711,226
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IDO1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:24844751
RGD:39939118
NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
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IL6
interleukin 6
treatment
ISO
protein:increased expression:brain
RGD
PMID:25443778 PMID:8943431 PMID:11581077
RGD:9831197 , RGD:11062107 , RGD:11060264
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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LGALS3
galectin 3
ISO
mRNA, protein:increased expression:brain
RGD
PMID:17706429
RGD:9685206
NCBI chr14:55,129,252...55,145,430
Ensembl chr14:55,124,110...55,145,423
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LGALS9
galectin 9
ISO
RGD
PMID:17706429
RGD:9685206
NCBI chr17:27,631,188...27,649,560
Ensembl chr17:27,629,798...27,649,560
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MARCO
macrophage receptor with collagenous structure
ISO
protein:increased expression:meninges, astrocyte
RGD
PMID:21299846
RGD:41412190
NCBI chr 2:118,942,194...118,994,660
Ensembl chr 2:118,942,194...118,994,660
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MMP2
matrix metallopeptidase 2
treatment
ISO
RGD
PMID:24419461
RGD:8657111
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MMP9
matrix metallopeptidase 9
treatment
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:17371820 PMID:24419461
RGD:1642043 , RGD:8657111
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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NOD2
nucleotide binding oligomerization domain containing 2
ISO
mRNA, protein:increased expression:brain
RGD
PMID:25443778
RGD:9831197
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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NTRK2
neurotrophic receptor tyrosine kinase 2
ISO
mRNA:increased expression:brain
RGD
PMID:21603940
RGD:5684913
NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:brain, nucleus
RGD
PMID:25443778
RGD:9831197
NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
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SERPING1
serpin family G member 1
treatment
IDA
RGD
PMID:17538891
RGD:8661645
NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171
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TLR2
toll like receptor 2
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,070...153,706,260
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TLR4
toll like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TLR9
toll like receptor 9
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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TNF
tumor necrosis factor
disease_progression
ISO
protein:increased expression:brain mRNA:increased expression:brain (rat)
RGD
PMID:25443778 PMID:31933824
RGD:9831197 , RGD:40903068
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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AICDA
activation induced cytidine deaminase
ISO
RGD
PMID:26456931
RGD:11098923
NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242
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ALOX5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:20231413
RGD:4890435
NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119
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BTK
Bruton tyrosine kinase
ameliorates
ISO
RGD
PMID:30646846
RGD:124715470
NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796
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C3
complement C3
disease_progression
ISO IEP
associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion protein:decreased expression:serum
RGD
PMID:17956621 PMID:15972516 PMID:20405
RGD:5129523 , RGD:5129509 , RGD:5130163
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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C5
complement C5
severity
ISO
RGD
PMID:7814608
RGD:5130159
NCBI chr 9:120,952,335...121,074,865
Ensembl chr 9:120,932,987...121,075,195
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CCL5
C-C motif chemokine ligand 5
susceptibility
ISO
RGD
PMID:16455992
RGD:4892130
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CD14
CD14 molecule
ISO
RGD
PMID:17185649
RGD:4144788
NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700
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CHI3L1
chitinase 3 like 1
IEP
protein:increased secretion:serum (human)
RGD
PMID:10515841
RGD:4892626
NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
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CRHR1
corticotropin releasing hormone receptor 1
ISO
RGD
PMID:21774994
RGD:5147472
NCBI chr17:45,784,320...45,835,828
Ensembl chr17:45,784,277...45,835,828
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CRHR2
corticotropin releasing hormone receptor 2
ISO
RGD
PMID:21774994
RGD:5147472
NCBI chr 7:30,651,942...30,700,103
Ensembl chr 7:30,651,942...30,700,129
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CRP
C-reactive protein
disease_progression
IEP
RGD
PMID:21281676
RGD:5131293
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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CXCL1
C-X-C motif chemokine ligand 1
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20958976
RGD:5134957
NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
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CXCL8
C-X-C motif chemokine ligand 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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CXCL9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:lung
RGD
PMID:20381636
RGD:5135285
NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
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DEFB4A
defensin beta 4A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716 Ensembl chr 8:7,894,677...7,896,716
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HMOX1
heme oxygenase 1
ISO
associated with influenza;protein:increased expression:lung
RGD
PMID:17348295
RGD:4145366
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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HP
haptoglobin
IEP
RGD
PMID:19396720
RGD:5147385
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
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IL15
interleukin 15
ISO
protein:increased expression:alveolar macrophage, bronchial epithelial cell
RGD
PMID:17611121
RGD:5000755
NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
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IL15RA
interleukin 15 receptor subunit alpha
ISO
RGD
PMID:17611121
RGD:5000755
NCBI chr10:5,948,900...5,978,741
Ensembl chr10:5,943,639...5,978,187
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IL17A
interleukin 17A
ISO
RGD
PMID:19995896
RGD:4888531
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL18
interleukin 18
ISO
RGD
PMID:15770015
RGD:4889960
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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IL6
interleukin 6
ISO
RGD
PMID:20643849
RGD:4143255
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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LEP
leptin
ISO
RGD
PMID:17822444
RGD:5128869
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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LEPR
leptin receptor
ISO
RGD
PMID:21148797
RGD:5128846
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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MAPK1
mitogen-activated protein kinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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MAPK3
mitogen-activated protein kinase 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
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MASP2
MBL associated serine protease 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12904520
NCBI chr 1:11,026,523...11,047,239
Ensembl chr 1:11,022,009...11,047,239
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MBL2
mannose binding lectin 2
no_association
IAGP
DNA:polymorphisms:5' utr, exon:multiple (human) DNA:mutations:5' utr, exon:multiple (human)
RGD
PMID:12047967 PMID:18641104
RGD:4889478 , RGD:4889477
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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NOS2
nitric oxide synthase 2
ISO
RGD
PMID:17056580
RGD:4891950
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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PTEN
phosphatase and tensin homolog
ameliorates
ISO
myeloid knockout
RGD
PMID:20505137
RGD:127285597
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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SFTPD
surfactant protein D
severity
ISO
RGD
PMID:16255775
RGD:4143519
NCBI chr10:79,937,740...79,982,383
Ensembl chr10:79,937,467...79,982,614
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SIRT1
sirtuin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
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STING1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29263110
RGD:39128230
NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
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TLR2
toll like receptor 2
ISO
RGD
PMID:19956717
RGD:4145321
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,070...153,706,260
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TNF
tumor necrosis factor
ISO
associated with influenza;protein:increased expression:lung
RGD
PMID:9032201 PMID:17348295
RGD:4143479 , RGD:4145366
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TREM1
triggering receptor expressed on myeloid cells 1
ameliorates
ISO
RGD
PMID:24752755 PMID:19596984
RGD:126928121 , RGD:127229903
NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
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