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: Streptococcal Infections
Accession: DOID:9006844
browse the term
Definition: Infections with bacteria of the genus STREPTOCOCCUS.
Synonyms: exact_synonym: Streptococcal Infection
primary_id: MESH:D013290
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CD86
CD86 molecule
ISO
associated with Encephalomyelitis, Experimental Autoimmune; protein:increased expression:spleen, dendritic cell (mouse)
RGD
PMID:16861672
RGD:4892553
NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
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IL17A
interleukin 17A
ISO
protein:increased expression:serum (mouse)
RGD
PMID:22384827
RGD:8698662
NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
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LCN2
lipocalin 2
ISO
mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium
RGD
PMID:16153241
RGD:126781709
NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798
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MX1
MX dynamin like GTPase 1
ISO
associated with pharyngitis;protein:increased expression:blood (human)
RGD
PMID:28077283
RGD:126777682
NCBI chr21:27,756,768...27,795,307
Ensembl chr21:41,095,928...41,123,019
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TLR2
toll like receptor 2
severity
ISO
RGD
PMID:19179417
RGD:7240559
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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TNF
tumor necrosis factor
ISO
associated with Otitis Media
RGD
PMID:8302123
RGD:11554174
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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CFH
complement factor H
exacerbates
ISO
RGD
PMID:26802141
RGD:108019050
NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521
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IL17A
interleukin 17A
susceptibility
ISO
associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human)
RGD
PMID:20437253
RGD:4889139
NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
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IL27
interleukin 27
ISO
associated with influenza A;protein:increased expression:lung (mouse)
RGD
PMID:24408967
RGD:11556418
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NFKBIA
NFKB inhibitor alpha
susceptibility
ISO
DNA:SNPs:enhancers: (rs3138053, rs2233406) (human) DNA:SNP: :(rs1050851) (human)
RGD
PMID:17463416 PMID:29407193
RGD:127285388 RGD:127285391
NCBI chr14:16,155,331...16,158,588
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TIRAP
TIR domain containing adaptor protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17322885
NCBI chr11:121,100,558...121,112,844
Ensembl chr11:125,018,064...125,022,309
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ADAM17
ADAM metallopeptidase domain 17
treatment
ISO
RGD
PMID:24491581
RGD:13703038
NCBI chr2A:9,478,080...9,545,363
Ensembl chr2A:9,641,201...9,708,054
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AQP4
aquaporin 4
treatment
ISO
protein:increased expression:brain:
RGD
PMID:15695511
RGD:8698660
NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
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ATM
ATM serine/threonine kinase
ameliorates
ISO
RGD
PMID:15529270
RGD:126781748
NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
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CAMP
cathelicidin antimicrobial peptide
ISO
protein:increased expression:brain, coronal section (rat)
RGD
PMID:19879657
RGD:2316237
NCBI chr 3:48,137,785...48,139,893
Ensembl chr 3:49,222,110...49,224,250
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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:67,412,410...67,469,366
Ensembl chr X:77,524,455...77,525,468
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CYSLTR2
cysteinyl leukotriene receptor 2
ISO
mRNA, protein:increased expression:brain (rat)
RGD
PMID:31933824
RGD:40903068
NCBI chr13:29,796,598...29,853,676
Ensembl chr13:48,551,757...48,552,797
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IDO1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:24844751
RGD:39939118
NCBI chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352
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IL6
interleukin 6
treatment
ISO
protein:increased expression:brain
RGD
PMID:8943431 PMID:11581077 PMID:25443778
RGD:11060264 RGD:11062107 RGD:9831197
NCBI chr 7:23,415,922...23,420,767
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LGALS3
galectin 3
ISO
mRNA, protein:increased expression:brain
RGD
PMID:17706429
RGD:9685206
NCBI chr14:35,715,850...35,732,263
Ensembl chr14:53,990,023...54,006,412
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LOC100976904
growth-regulated alpha protein
ISO
RGD
PMID:21109308
RGD:5134982
NCBI chr 4:50,325,248...50,327,165
Ensembl chr 4:56,153,899...56,159,474
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LOC100977210
galectin-9
ISO
RGD
PMID:17706429
RGD:9685206
NCBI chr17:29,125,460...29,145,028
Ensembl chr17:29,623,398...29,642,959
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MARCO
macrophage receptor with collagenous structure
ISO
protein:increased expression:meninges, astrocyte
RGD
PMID:21299846
RGD:41412190
NCBI chr2B:5,896,433...5,940,284
Ensembl chr2B:119,475,677...119,520,385
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MMP2
matrix metallopeptidase 2
treatment
ISO
RGD
PMID:24419461
RGD:8657111
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
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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 chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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NOD2
nucleotide binding oligomerization domain containing 2
ISO
mRNA, protein:increased expression:brain
RGD
PMID:25443778
RGD:9831197
NCBI chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773
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NTRK2
neurotrophic receptor tyrosine kinase 2
ISO
mRNA:increased expression:brain
RGD
PMID:21603940
RGD:5684913
NCBI chr 9:39,663,986...40,208,770
Ensembl chr 9:84,021,837...84,372,678
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:brain, nucleus
RGD
PMID:25443778
RGD:9831197
NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
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SERPING1
serpin family G member 1
treatment
ISO
RGD
PMID:17538891
RGD:8661645
NCBI chr11:52,838,502...52,855,781
Ensembl chr11:56,309,686...56,326,639
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TLR2
toll like receptor 2
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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TLR4
toll like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
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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:40903068 RGD:9831197
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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AICDA
activation induced cytidine deaminase
ISO
RGD
PMID:26456931
RGD:11098923
NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
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ALOX5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:20231413
RGD:4890435
NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016
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BTK
Bruton tyrosine kinase
ameliorates
ISO
RGD
PMID:30646846
RGD:124715470
NCBI chr X:90,551,874...90,588,786
Ensembl chr X:100,684,017...100,725,187
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C3
complement C3
disease_progression
ISO
associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion protein:decreased expression:serum
RGD
PMID:20405 PMID:15972516 PMID:17956621
RGD:5129509 RGD:5129523 RGD:5130163
NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
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C5
complement C5
severity
ISO
RGD
PMID:7814608
RGD:5130159
NCBI chr 9:92,069,574...92,202,513
Ensembl chr 9:120,426,354...120,523,856
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CCL5
C-C motif chemokine ligand 5
susceptibility
ISO
RGD
PMID:16455992
RGD:4892130
NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
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CD14
CD14 molecule
ISO
RGD
PMID:17185649
RGD:4144788
NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966
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CHI3L1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:10515841
RGD:4892626
NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229
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CRHR1
corticotropin releasing hormone receptor 1
ISO
RGD
PMID:21774994
RGD:5147472
NCBI chr17:11,261,435...11,313,630
Ensembl chr17:11,650,057...11,701,208
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CRHR2
corticotropin releasing hormone receptor 2
ISO
RGD
PMID:21774994
RGD:5147472
NCBI chr 7:31,265,619...31,313,902
Ensembl chr 7:31,386,026...31,434,220
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CRP
C-reactive protein
disease_progression
ISO
RGD
PMID:21281676
RGD:5131293
NCBI chr 1:135,062,102...135,064,402
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CXCL8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
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CXCL9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:lung
RGD
PMID:20381636
RGD:5135285
NCBI chr 4:48,198,478...48,204,658
Ensembl chr 4:54,036,342...54,042,502
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HMOX1
heme oxygenase 1
ISO
associated with influenza;protein:increased expression:lung
RGD
PMID:17348295
RGD:4145366
NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
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IL15
interleukin 15
ISO
protein:increased expression:alveolar macrophage, bronchial epithelial cell
RGD
PMID:17611121
RGD:5000755
NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622
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IL15RA
interleukin 15 receptor subunit alpha
ISO
RGD
PMID:17611121
RGD:5000755
NCBI chr10:5,993,583...6,019,967
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IL17A
interleukin 17A
ISO
RGD
PMID:19995896
RGD:4888531
NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
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IL18
interleukin 18
ISO
RGD
PMID:15770015
RGD:4889960
NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
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IL6
interleukin 6
ISO
RGD
PMID:20643849
RGD:4143255
NCBI chr 7:23,415,922...23,420,767
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LEP
leptin
ISO
RGD
PMID:17822444
RGD:5128869
NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
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LEPR
leptin receptor
ISO
RGD
PMID:21148797
RGD:5128846
NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
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LOC100976904
growth-regulated alpha protein
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20958976
RGD:5134957
NCBI chr 4:50,325,248...50,327,165
Ensembl chr 4:56,153,899...56,159,474
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MAPK1
mitogen-activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
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MAPK3
mitogen-activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
Ensembl chr16:30,489,362...30,498,017
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MASP2
MBL associated serine protease 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12904520
NCBI chr 1:9,787,565...9,810,276
Ensembl chr 1:11,009,760...11,030,734
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MBL2
mannose binding lectin 2
no_association
ISO
DNA:polymorphisms:5' utr, exon:multiple (human) DNA:mutations:5' utr, exon:multiple (human)
RGD
PMID:12047967 PMID:18641104
RGD:4889477 RGD:4889478
NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
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NOS2
nitric oxide synthase 2
ISO
RGD
PMID:17056580
RGD:4891950
NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
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PTEN
phosphatase and tensin homolog
ameliorates
ISO
myeloid knockout
RGD
PMID:20505137
RGD:127285597
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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SFTPD
surfactant protein D
severity
ISO
RGD
PMID:16255775
RGD:4143519
NCBI chr10:76,275,147...76,318,952
Ensembl chr10:78,965,252...78,974,181
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SIRT1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
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STING1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29263110
RGD:39128230
NCBI chr 5:134,845,689...134,852,938
Ensembl chr 5:140,967,399...140,973,846
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TLR2
toll like receptor 2
ISO
RGD
PMID:19956717
RGD:4145321
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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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 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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TREM1
triggering receptor expressed on myeloid cells 1
ameliorates
ISO
RGD
PMID:19596984 PMID:24752755
RGD:126928121 RGD:127229903
NCBI chr 6:40,861,283...40,874,446
Ensembl chr 6:42,163,337...42,183,091
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GC
GC vitamin D binding protein
ISO
RGD
PMID:2737695
RGD:5509933
NCBI chr 4:52,431,196...52,473,762
Ensembl chr 4:58,729,236...58,792,073
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ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:14567831
RGD:13702910
NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
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LOC100972994
HLA class II histocompatibility antigen, DQ beta 1 chain
ISO
DNA:polymorphisms, haplotypes:multiple
RGD
PMID:17559688
RGD:5147792
NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
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ACTA2
actin alpha 2, smooth muscle
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080
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BAX
BCL2 associated X, apoptosis regulator
ISO
mRNA:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
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CD209
CD209 molecule
ISO
protein:increased expression:left cardiac atrium, dendritic cell (human)
RGD
PMID:30261069
RGD:41410815
NCBI chr19:7,042,033...7,047,350
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CD36
CD36 molecule (CD36 blood group)
ISO
mRNA:decreased expression:blood, mononuclear cell
RGD
PMID:16741676
RGD:6893529
NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
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COL1A1
collagen type I alpha 1 chain
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
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COL3A1
collagen type III alpha 1 chain
ISO
mRNA:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
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FCN3
ficolin 3
ISO
ClinVar Annotator: match by term: Rheumatic heart disease
ClinVar
NCBI chr 1:26,620,373...26,636,424
Ensembl chr 1:27,676,866...27,683,861
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GAPDH
glyceraldehyde-3-phosphate dehydrogenase
ISO
RGD
PMID:26823728
RGD:13792679
NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729
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IGF1
insulin like growth factor 1
ISO
RGD
PMID:16406300
RGD:1582623
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
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IL10
interleukin 10
no_association
ISO
RGD
PMID:16043936
RGD:1598626
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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INHBA
inhibin subunit beta A
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 7:42,538,591...42,556,578
Ensembl chr 7:42,580,730...42,595,097
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LEF1
lymphoid enhancer binding factor 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 4:100,552,959...100,674,156
Ensembl chr 4:111,125,312...111,245,980
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LOC100972994
HLA class II histocompatibility antigen, DQ beta 1 chain
ISO
DNA:polymorphisms:cds:HLA-DQB1*08 (human)
RGD
PMID:17578051
RGD:5147630
NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
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MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:16406300
RGD:1582623
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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SNAI1
snail family transcriptional repressor 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr20:46,321,075...46,328,865
Ensembl chr20:47,384,818...47,390,733
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SOCS1
suppressor of cytokine signaling 1
treatment
ISO
RGD
PMID:31894293
RGD:151347417
NCBI chr16:10,196,432...10,198,205
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TWIST1
twist family bHLH transcription factor 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 7:19,761,041...19,765,665
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ZEB1
zinc finger E-box binding homeobox 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr10:31,449,202...31,659,534
Ensembl chr10:32,046,491...32,253,550
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ZEB2
zinc finger E-box binding homeobox 2
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr2B:15,325,094...15,460,908
Ensembl chr2B:148,460,904...148,596,500
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GSN
gelsolin
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:25403731
RGD:329333026
NCBI chr 9:92,413,819...92,460,483
Ensembl chr 9:120,741,148...120,805,831
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ICAM1
intercellular adhesion molecule 1
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
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SELE
selectin E
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr 1:145,205,684...145,217,143
Ensembl chr 1:148,930,437...148,938,313
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VCAM1
vascular cell adhesion molecule 1
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
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ATM
ATM serine/threonine kinase
exacerbates
ISO
RGD
PMID:27421701
RGD:126779562
NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
G
BTK
Bruton tyrosine kinase
ISO
RGD
PMID:30873567
RGD:124715473
NCBI chr X:90,551,874...90,588,786
Ensembl chr X:100,684,017...100,725,187
G
IDO1
indoleamine 2,3-dioxygenase 1
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:20385761
RGD:39938865
NCBI chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352
G
IFNG
interferon gamma
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
G
IL6
interleukin 6
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr 7:23,415,922...23,420,767
G
IRAK3
interleukin 1 receptor associated kinase 3
severity
ISO
RGD
PMID:22492852
RGD:35316076
NCBI chr12:22,661,613...22,721,203
Ensembl chr12:23,168,346...23,227,148
G
ITGB2
integrin subunit beta 2
susceptibility
ISO
RGD
PMID:11390487
RGD:127345090
NCBI chr21:31,181,228...31,216,033
Ensembl chr21:44,470,999...44,505,963
G
LAMP1
lysosomal associated membrane protein 1
ISO
protein:increased expression:lung, natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr13:94,442,507...94,464,061
Ensembl chr13:113,507,401...113,530,457
G
LOC100978434
C-type lectin domain family 4 member M
severity
ISO
RGD
PMID:16134084
RGD:39938986
NCBI chr19:7,062,961...7,069,381
G
MARCO
macrophage receptor with collagenous structure
exacerbates
ISO
RGD
PMID:15263032
RGD:41412189
NCBI chr2B:5,896,433...5,940,284
Ensembl chr2B:119,475,677...119,520,385
G
NCR1
natural cytotoxicity triggering receptor 1
severity
ISO
RGD
PMID:21887255
RGD:40818252
NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274
G
PDCD1
programmed cell death 1
treatment
ISO
RGD
PMID:25624454
RGD:40818422
NCBI chr12:130,849,353...130,858,776
G
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
treatment
ISO
associated with immunodeficiency 14
RGD
PMID:30093657
RGD:40890269
NCBI chr 1:8,418,570...8,495,435
Ensembl chr 1:9,686,208...9,724,633
G
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
severity
ISO
RGD
PMID:17322108
RGD:38599154
NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614
G
RIPK3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:33625952
RGD:127229925
NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821
G
TNF
tumor necrosis factor
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all