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.
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Casp3
caspase 3
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:16443785
RGD:2311430
NCBI chrNW_004955403:24,315,712...24,326,271
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Casp8
caspase 8
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:16443785
RGD:2311430
NCBI chrNW_004955403:322,082...348,591
Ensembl chrNW_004955403:322,555...347,053
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Casp9
caspase 9
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:16443785
RGD:2311430
NCBI chrNW_004955527:2,613,691...2,630,217
Ensembl chrNW_004955527:2,613,683...2,629,738
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Dock8
dedicator of cytokinesis 8
susceptibility
ISO
DNA:mutations: :
RGD
PMID:25724123
RGD:40886274
NCBI chrNW_004955434:4,849,147...5,050,545
Ensembl chrNW_004955434:4,867,016...5,049,118
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Il10
interleukin 10
ISO
associated with Otitis Media
RGD
PMID:22668804
RGD:7364828
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Il2
interleukin 2
ISO
associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood
RGD
PMID:21574159
RGD:5147907
NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
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Mbl2
mannose binding lectin 2
susceptibility
ISO
associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism:exon:
RGD
PMID:24453114
RGD:11530056
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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Nod2
nucleotide binding oligomerization domain containing 2
ISO
associated with Virus Diseases
RGD
PMID:21669398
RGD:5508748
NCBI chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710
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Sdc4
syndecan 4
ISO
RGD
PMID:15001228
RGD:2312325
NCBI chrNW_004955445:11,990,916...12,009,178
Ensembl chrNW_004955445:11,990,792...12,011,553
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Tbce
tubulin folding cofactor E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12389028
NCBI chrNW_004955492:4,502,705...4,573,126
Ensembl chrNW_004955492:4,502,897...4,558,697
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Abcb1
ATP binding cassette subfamily B member 1
treatment
ISO
DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human) DNA:SNP: : rs10276036(human)
RGD
PMID:23372834 PMID:24517233
RGD:11098698 RGD:39456119
NCBI chrNW_004955432:4,911,774...5,085,349
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Arhgap44
Rho GTPase activating protein 44
disease_progression
ISO
DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human) DNA:SNP:intron: (rs2072255) (human)
RGD
PMID:21107268 PMID:28069446
RGD:401901288 RGD:401901289
NCBI chrNW_004955467:4,428,738...4,590,877
Ensembl chrNW_004955467:4,430,087...4,522,611
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Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:9499800
RGD:11344976
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
susceptibility
ISO
DNA:polymorphism:exon:p.K751Q(human)
RGD
PMID:20127180
RGD:5688740
NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
associated with pulmonary tuberculosis;protein:increased expression:blood (human)
RGD
PMID:32369456
RGD:39939073
NCBI chrNW_004955536:2,944,770...2,955,829
Ensembl chrNW_004955536:2,943,611...2,955,829
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Ifng
interferon gamma
ISO
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to
ClinVar
PMID:12854077
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Igf2
insulin like growth factor 2
ISO
protein:decreased expression:plasma
RGD
PMID:11232005
RGD:5509969
NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
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Il2
interleukin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9861562
NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
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Ncr3
natural cytotoxicity triggering receptor 3
ISO
protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD
PMID:27382604
RGD:40818276
NCBI chrNW_004955437:130,360...134,751
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Tnf
tumor necrosis factor
ISO
RGD
PMID:8548330
RGD:12904035
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:8548330
RGD:12904035
NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
RGD
PMID:8548330
RGD:12904035
NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362
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LOC102004444
beta-defensin 1-like
ISO
mRNA:increased expression:gingival epithelium
RGD
PMID:17076783
RGD:4892269
NCBI chrNW_004955403:53,643,328...53,644,361
Ensembl chrNW_004955403:53,643,300...53,644,505
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Adrb2
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chrNW_004955415:5,515,157...5,517,198
Ensembl chrNW_004955415:5,515,697...5,516,980
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Epo
erythropoietin
treatment
ISO
RGD
PMID:20818790
RGD:10395393
NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355
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Gc
GC vitamin D binding protein
ISO
associated with HIV Infections;protein:increased expression:cerebrospinal fluid:
RGD
PMID:17929958
RGD:5509882
NCBI chrNW_004955447:1,361,698...1,400,633
Ensembl chrNW_004955447:1,361,566...1,402,491
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Il1b
interleukin 1 beta
ISO
protein:increased expression:neocortex
RGD
PMID:17678975
RGD:1626641
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Insr
insulin receptor
severity
ISO
protein:increased expression:cerebrospinal fluid, plasma
RGD
PMID:22629383
RGD:10403033
NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149
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Irs1
insulin receptor substrate 1
severity
ISO
protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte
RGD
PMID:22629383
RGD:10403033
NCBI chrNW_004955453:7,685,715...7,742,262
Ensembl chrNW_004955453:7,685,715...7,742,262
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Nefl
neurofilament light chain
ISO
associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human) protein:increased expression:CSF (human)
RGD
PMID:27400930 PMID:30105502
RGD:127284876 RGD:127284885
NCBI chrNW_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026
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Npy
neuropeptide Y
severity
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:8815163
RGD:10431910
NCBI chrNW_004955410:26,348,388...26,355,232
Ensembl chrNW_004955410:26,348,504...26,355,297
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Oprm1
opioid receptor mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chrNW_004955439:7,870,563...7,923,817
Ensembl chrNW_004955439:7,757,569...7,923,817
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Pdgfb
platelet derived growth factor subunit B
ISO
RGD
PMID:21368226
RGD:6482787
NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987
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Slc6a4
solute carrier family 6 member 4
ISO
RGD
PMID:25404050
RGD:38676266
NCBI chrNW_004955481:3,088,440...3,122,421
Ensembl chrNW_004955481:3,088,416...3,125,711
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Agtr2
angiotensin II receptor type 2
ISO
RGD
PMID:2
RGD:1303381
NCBI chrNW_004955534:3,653,112...3,654,248
Ensembl chrNW_004955534:3,653,157...3,654,248
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Egf
epidermal growth factor
ISO
RGD
PMID:19357719
RGD:6906909
NCBI chrNW_004955496:325,954...401,430
Ensembl chrNW_004955496:328,075...401,569
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Mtor
mechanistic target of rapamycin kinase
ISO
RGD
PMID:23678040
RGD:7245474
NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694
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Myh9
myosin heavy chain 9
ISO
protein:decreased expression:glomerulus
RGD
PMID:22313957
RGD:6903274
NCBI chrNW_004955413:22,881,759...22,972,182
Ensembl chrNW_004955413:22,881,045...22,972,450
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Notch4
notch receptor 4
ISO
protein: increased expression: kidney
RGD
PMID:20706108
RGD:6480788
NCBI chrNW_004955437:658,076...679,338
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Nphs1
NPHS1 adhesion molecule, nephrin
treatment
ISO
RGD
PMID:17229913 PMID:19188342
RGD:38596324 RGD:38599164
NCBI chrNW_004955468:2,715,728...2,734,174
Ensembl chrNW_004955468:2,714,419...2,734,830
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Bcl2
BCL2 apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10861090
NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
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Cd4
CD4 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9546790
NCBI chrNW_004955413:4,400,326...4,422,110
Ensembl chrNW_004955413:4,408,390...4,421,535
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9379333
NCBI chrNW_004955486:1,839,642...1,910,080
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:17545018
RGD:7483603
NCBI chrNW_004955453:6,846,625...6,850,007
Ensembl chrNW_004955453:6,846,549...6,850,031
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Cd8a
CD8 subunit alpha
ISO
mRNA:decreased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chrNW_004955424:952,595...979,159
Ensembl chrNW_004955424:952,502...978,636
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Ctla4
cytotoxic T-lymphocyte associated protein 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
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Foxp3
forkhead box P3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
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Il10
interleukin 10
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Il12b
interleukin 12B
treatment
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:40400714 RGD:7829774
NCBI chrNW_004955408:13,302,506...13,316,300
Ensembl chrNW_004955408:13,304,219...13,312,620
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Il2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
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Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:31414711
RGD:127285371
NCBI chrNW_004955428:18,057,096...18,065,492
Ensembl chrNW_004955428:18,057,096...18,065,492
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Il4
interleukin 4
treatment
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:40400714 RGD:7829774
NCBI chrNW_004955408:4,058,052...4,065,999
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Il6
interleukin 6
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955410:25,079,835...25,084,390
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Mapk8
mitogen-activated protein kinase 8
treatment
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chrNW_004955556:1,593,552...1,705,543
Ensembl chrNW_004955556:1,593,494...1,665,784
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Myd88
MYD88 innate immune signal transduction adaptor
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955427:25,553,589...25,557,654
Ensembl chrNW_004955427:25,553,589...25,559,138
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Pdcd1
programmed cell death 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
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Ptpn11
protein tyrosine phosphatase non-receptor type 11
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
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Ptpn6
protein tyrosine phosphatase non-receptor type 6
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chrNW_004955413:4,525,954...4,547,177
Ensembl chrNW_004955413:4,525,954...4,547,177
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Serpinf1
serpin family F member 1
disease_progression
ISO
mRNA, protein:decreased expression:skin of body (human)
RGD
PMID:23569025
RGD:27226706
NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241
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Tgfb1
transforming growth factor beta 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
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Tlr2
toll like receptor 2
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tlr3
toll like receptor 3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955403:22,977,882...23,001,392
Ensembl chrNW_004955403:22,979,120...23,001,467
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Tlr4
toll like receptor 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Tlr7
toll like receptor 7
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955544:424,897...443,562
Ensembl chrNW_004955544:424,850...443,564
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Tlr8
toll like receptor 8
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955544:302,027...317,110
Ensembl chrNW_004955544:303,319...306,426
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Tlr9
toll like receptor 9
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582
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Tnf
tumor necrosis factor
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tnfrsf18
TNF receptor superfamily member 18
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955486:9,571,527...9,573,733
Ensembl chrNW_004955486:9,571,530...9,573,733
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Antxr2
ANTXR cell adhesion molecule 2
ISO
RGD
PMID:17054395
RGD:1599126
NCBI chrNW_004955433:4,212,729...4,345,611
Ensembl chrNW_004955433:4,212,729...4,345,066
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Il1b
interleukin 1 beta
disease_progression
ISO
mRNA:decreased expression:multiple (mouse)
RGD
PMID:19075243
RGD:40902812
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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LOC102018844
neutrophil elastase
ISO
protein:increased expression:plasma:
RGD
PMID:19049643
RGD:10450550
NCBI chrNW_004955495:6,964,577...6,967,208
Ensembl chrNW_004955495:6,964,667...6,967,106
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Rnasel
ribonuclease L
severity
ISO
RGD
PMID:19075243
RGD:40902812
NCBI chrNW_004955406:21,413,950...21,424,860
Ensembl chrNW_004955406:21,411,980...21,425,052
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Tnf
tumor necrosis factor
disease_progression
ISO
protein:decreased expression:multiple (mouse)
RGD
PMID:19075243
RGD:40902812
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Edn1
endothelin 1
ISO
protein:increased secretion:plasma (rat)
RGD
PMID:19262391
RGD:4145069
NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753
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Il1a
interleukin 1 alpha
ISO
protein:increased expression:Bronchoalveolar Lavage Fluid
RGD
PMID:18042282
RGD:4142854
NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15607125
NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
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Tnf
tumor necrosis factor
ISO
protein:increased expression:Bronchoalveolar Lavage Fluid
RGD
PMID:18042282
RGD:4142854
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:serum (human)
RGD
PMID:25539588
RGD:11541121
NCBI chrNW_004955478:7,448,584...7,531,860
Ensembl chrNW_004955478:7,478,492...7,531,188
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Cebpb
CCAAT enhancer binding protein beta
ISO
associated with alcohol use disorder;mRNA:increased expression:bone marrow (mouse)
RGD
PMID:28784931
RGD:40903040
NCBI chrNW_004955445:8,060,432...8,061,289
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Cish
cytokine inducible SH2 containing protein
susceptibility
ISO
ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2
OMIM ClinVar
PMID:20484391
NCBI chrNW_004955532:2,380,380...2,386,000
Ensembl chrNW_004955532:2,378,088...2,386,000
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Cpb2
carboxypeptidase B2
ISO
protein:decreased activity:plasma
RGD
PMID:17911187
RGD:2313646
NCBI chrNW_004955518:3,740,348...3,803,540
Ensembl chrNW_004955518:3,740,348...3,803,539
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Csf2
colony stimulating factor 2
treatment
ISO
RGD
PMID:2192004
RGD:10449532
NCBI chrNW_004955408:3,452,009...3,454,255
Ensembl chrNW_004955408:3,451,965...3,454,312
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
severity
ISO
RGD
PMID:11565076
RGD:5508478
NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
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Icam1
intercellular adhesion molecule 1
ISO
mRNA:increased expression:lung,thymus,spleen:
RGD
PMID:24891762
RGD:11354979
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
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Il17a
interleukin 17A
ISO
associated with Respiratory Distress Syndrome, Adult; protein:increased expression:serum
RGD
PMID:21062445
RGD:5128683
NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
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Il27
interleukin 27
ISO
protein:increased expression:blood serum (human)
RGD
PMID:26514771
RGD:126790515
NCBI chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417
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Itih4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
protein:increased expression:liver, serum
RGD
PMID:33348064
RGD:40907057
NCBI chrNW_004955430:2,772,064...2,787,912
Ensembl chrNW_004955430:2,770,373...2,789,131
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Mapkapk3
MAPK activated protein kinase 3
ISO
ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2
ClinVar
PMID:20484391
NCBI chrNW_004955532:2,392,539...2,419,219
Ensembl chrNW_004955532:2,392,539...2,420,604
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Mbl2
mannose binding lectin 2
treatment
ISO
associated with Multiple Myeloma:DNA:polymorphism:exon:
RGD
PMID:16953214
RGD:11530047
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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Nod2
nucleotide binding oligomerization domain containing 2
severity
ISO
associated with Staphylococcal Infections;
RGD
PMID:24086711
RGD:13204726
NCBI chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1430592
NCBI chrNW_004955536:730,962...754,333
Ensembl chrNW_004955536:730,981...756,394
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Plaur
plasminogen activator, urokinase receptor
severity
ISO
RGD
PMID:21332843
RGD:6483799
NCBI chrNW_004955555:1,378,505...1,393,395
Ensembl chrNW_004955555:1,378,793...1,393,324
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Serpinc1
serpin family C member 1
treatment
ISO
RGD
PMID:2679067
RGD:11035251
NCBI chrNW_004955406:14,024,183...14,036,206
Ensembl chrNW_004955406:14,024,313...14,035,948
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Sod2
superoxide dismutase 2
ISO
mRNA:increased expression:liver:
RGD
PMID:24253037
RGD:26923958
NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
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Tirap
TIR domain containing adaptor protein
ISO
ClinVar Annotator: match by term: Bacteremia, susceptibility to, 1
OMIM ClinVar
PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868
NCBI chrNW_004955412:27,303,548...27,315,031
Ensembl chrNW_004955412:27,312,489...27,315,031
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Tlr4
toll like receptor 4
susceptibility
ISO
DNA:polymorphisms:cds:p.D299G, T399I (human)
RGD
PMID:18180796
RGD:4144194
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Muc1
mucin 1, cell surface associated
ISO
RGD
PMID:10359313
RGD:7349379
NCBI chrNW_004955545:1,657,728...1,662,112
G
Cxcl8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23661603
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Tlr2
toll like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23661603
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Cxcl8
C-X-C motif chemokine ligand 8
susceptibility
ISO
associated with Helicobacter Infections;DNA:SNP:promoter: -251T>A (rs4073) (human)
RGD
PMID:31522447
RGD:40925938
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Jak2
Janus kinase 2
ISO
protein:increased expression:stomach (human)
RGD
PMID:24718681
RGD:126928128
NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208
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Il1r1
interleukin 1 receptor type 1
ISO
associated with Serratia Infections;
RGD
PMID:23033384
RGD:8662876
NCBI chrNW_004955470:7,685,498...7,703,374
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Ly96
lymphocyte antigen 96
ISO
associated with Serratia Infections;
RGD
PMID:23033384
RGD:8662876
NCBI chrNW_004955444:6,356,121...6,387,350
Ensembl chrNW_004955444:6,356,154...6,387,529
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Myd88
MYD88 innate immune signal transduction adaptor
ISO
associated with Serratia Infections; associated with Staphylococcal Infections;
RGD
PMID:16926427 PMID:23033384
RGD:8552819 RGD:8662876
NCBI chrNW_004955427:25,553,589...25,557,654
Ensembl chrNW_004955427:25,553,589...25,559,138
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Tlr2
toll like receptor 2
ISO
associated with Pneumococcal Infections; associated with Staphylococcal Infections;
RGD
PMID:16926427 PMID:23841825
RGD:8552819 RGD:8552886
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tlr4
toll like receptor 4
ISO
associated with Serratia Infections; associated with Pneumococcal Infections;
RGD
PMID:23033384 PMID:23841825
RGD:8552886 RGD:8662876
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Tlr5
toll like receptor 5
ISO
associated with Serratia Infections;
RGD
PMID:23033384
RGD:8662876
NCBI chrNW_004955520:1,544,840...1,562,081
Ensembl chrNW_004955520:1,556,523...1,559,093
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Cxcl8
C-X-C motif chemokine ligand 8
severity
ISO
protein:increased expression:nasal mucus (human)
RGD
PMID:24211414
RGD:40925940
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Marco
macrophage receptor with collagenous structure
disease_progression
ISO
association with Cryptococcal neoformans infection.
RGD
PMID:28298522
RGD:41412191
NCBI chrNW_004955459:10,700,645...10,739,222
Ensembl chrNW_004955459:10,698,294...10,739,131
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Ache
acetylcholinesterase (Cartwright blood group)
ISO
RGD
PMID:21303225
RGD:5688130
NCBI chrNW_004955573:79,606...85,799
Ensembl chrNW_004955573:80,298...85,799
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Bche
butyrylcholinesterase
ISO
protein:increased expression:blood
RGD
PMID:21303225
RGD:5688130
NCBI chrNW_004955448:15,327,374...15,396,827
Ensembl chrNW_004955448:15,329,273...15,396,970
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Bdnf
brain derived neurotrophic factor
ISO
mRNA:decreased expression:hippocampus,cerebral cortex: mRNA, protein:increased expression:hippocampus
RGD
PMID:16141791 PMID:22683802
RGD:5684920 RGD:8655554
NCBI chrNW_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588
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Cd46
CD46 molecule
ISO
RGD
PMID:16948860
RGD:6483465
NCBI chrNW_004955406:43,002,817...43,034,555
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Chi3l1
chitinase 3 like 1
severity
ISO
protein:increased secretion:cerebrospinal fluid (human)
RGD
PMID:11986266
RGD:4892662
NCBI chrNW_004955406:39,195,101...39,201,808
Ensembl chrNW_004955406:39,191,073...39,202,020
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:10430840
RGD:8547971
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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Ngf
nerve growth factor
ISO
mRNA:decreased expression:hippocampus:
RGD
PMID:22683802
RGD:8655554
NCBI chrNW_004955435:18,581,889...18,633,330
Ensembl chrNW_004955435:18,581,808...18,601,059
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Ntrk2
neurotrophic receptor tyrosine kinase 2
ISO
mRNA, protein:increased expression:hippocampus
RGD
PMID:16141791
RGD:5684920
NCBI chrNW_004955432:2,284,283...2,629,631
Ensembl chrNW_004955432:2,288,898...2,630,878
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Parp1
poly(ADP-ribose) polymerase 1
susceptibility
ISO
DNA:snp:cds:p.V762A rs1136410 (human)
RGD
PMID:21651918
RGD:5683901
NCBI chrNW_004955489:520,875...557,609
Ensembl chrNW_004955489:520,875...557,615
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S100b
S100 calcium binding protein B
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:15105355
RGD:5508818
NCBI chrNW_004955407:42,972,584...42,980,510
Ensembl chrNW_004955407:42,972,584...42,980,510
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Abcc1
ATP binding cassette subfamily C member 1 (ABCC1 blood group)
ISO
RGD
PMID:11238654
RGD:5128828
NCBI chrNW_004955442:729,322...858,826
Ensembl chrNW_004955442:729,316...860,290
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Ace2
angiotensin converting enzyme 2
ISO
associated with Pseudomonas Infections;mRNA, protein:altered expression, altered activity:lung (mouse)
RGD
PMID:31645418
RGD:40818279
NCBI chrNW_004955519:2,591,229...2,643,705
Ensembl chrNW_004955519:2,591,248...2,633,495
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Ager
advanced glycosylation end-product specific receptor
severity
ISO
RGD
PMID:21629785
RGD:6767559
NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
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C3
complement C3
ISO
RGD
PMID:16014897
RGD:5129508
NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
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C3ar1
complement C3a receptor 1
ISO
RGD
PMID:16461429
RGD:5129690
NCBI chrNW_004955413:6,707,003...6,715,689
Ensembl chrNW_004955413:6,707,689...6,715,689
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Cat
catalase
ISO
protein:decreased expression:lung, plasma
RGD
PMID:19842849
RGD:5130748
NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
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Ccl19
C-C motif chemokine ligand 19
ISO
mRNA, protein:increased expression:lung
RGD
PMID:20176793
RGD:5130918
NCBI chrNW_004955472:1,444,598...1,446,488
Ensembl chrNW_004955472:1,444,316...1,446,490
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:20042590
RGD:4891443
NCBI chrNW_004955420:25,641,184...25,664,413
G
Ccr7
C-C motif chemokine receptor 7
ISO
RGD
PMID:20176793
RGD:5130918
NCBI chrNW_004955451:15,086,119...15,101,862
Ensembl chrNW_004955451:15,086,119...15,095,561
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Cd14
CD14 molecule
ISO
RGD
PMID:16210672
RGD:4144197
NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224
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Cd40
CD40 molecule
ISO
RGD
PMID:20102413
RGD:5132268
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
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Cd80
CD80 molecule
ISO
RGD
PMID:20949109
RGD:4892562
NCBI chrNW_004955427:19,237,251...19,274,001
Ensembl chrNW_004955427:19,236,445...19,261,517
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Chuk
component of inhibitor of nuclear factor kappa B kinase complex
ISO
RGD
PMID:18643924
RGD:5133701
NCBI chrNW_004955507:6,066,026...6,102,066
Ensembl chrNW_004955507:6,067,203...6,102,001
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Csf3
colony stimulating factor 3
disease_progression treatment
ISO
associated with Peritonitis;
RGD
PMID:12352049 PMID:21373266
RGD:11039437 RGD:5133733
NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
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Csf3r
colony stimulating factor 3 receptor
disease_progression
ISO
RGD
PMID:17185469
RGD:5133739
NCBI chrNW_004955452:14,409,484...14,425,818
Ensembl chrNW_004955452:14,411,708...14,422,187
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Cxcl10
C-X-C motif chemokine ligand 10
severity
ISO
RGD
PMID:15618188 PMID:16299319
RGD:5135458 RGD:5135459
NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927
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Cxcl11
C-X-C motif chemokine ligand 11
ISO
RGD
PMID:15618188
RGD:5135459
NCBI chrNW_004955433:769,449...771,137
Ensembl chrNW_004955433:766,272...771,231
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:15618188
RGD:5135459
NCBI chrNW_004955433:724,566...731,945
Ensembl chrNW_004955433:724,515...732,192
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:15618188
RGD:5135459
NCBI chrNW_004955475:11,148,928...11,152,313
Ensembl chrNW_004955475:11,148,879...11,152,596
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F2
coagulation factor II, thrombin
ISO
protein:increased expression:lung
RGD
PMID:21897338
RGD:6893486
NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
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Foxp3
forkhead box P3
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
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Gp1ba
glycoprotein Ib platelet subunit alpha
exacerbates
ISO
associated with Escherichia Coli Infections
RGD
PMID:27845343
RGD:42722624
NCBI chrNW_004955467:10,333,537...10,347,488
Ensembl chrNW_004955467:10,333,575...10,346,989
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Grk2
G protein-coupled receptor kinase 2
ISO
mRNA:decreased expression:polymorphonuclear leukocyte
RGD
PMID:24465168
RGD:126848796
NCBI chrNW_004955422:18,173,438...18,192,357
Ensembl chrNW_004955422:18,170,616...18,192,412
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:lung (mouse)
RGD
PMID:19846873
RGD:4145490
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
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Ifnar1
interferon alpha and beta receptor subunit 1
severity
ISO
RGD
PMID:19487810
RGD:5490274
NCBI chrNW_004955407:32,730,973...32,755,404
Ensembl chrNW_004955407:32,730,953...32,754,651
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Ifng
interferon gamma
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Il10
interleukin 10
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Il15
interleukin 15
ISO
RGD
PMID:17911627
RGD:5000754
NCBI chrNW_004955471:1,496,352...1,583,919
Ensembl chrNW_004955471:1,497,483...1,511,469
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Il17a
interleukin 17A
severity
ISO
RGD
PMID:18802100 PMID:25398094
RGD:38501102 RGD:4889153
NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
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Il18
interleukin 18
ISO
RGD
PMID:17664259
RGD:4889913
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
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Il1b
interleukin 1 beta
treatment severity
ISO
associated with Agranulocytosis
RGD
PMID:7546648 PMID:18596024 PMID:25398094
RGD:10755357 RGD:38501102 RGD:4143205
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Il1rl1
interleukin 1 receptor like 1
treatment
ISO
associated with Sepsis associated with Acinetobacter infectious disease
RGD
PMID:20959556 PMID:29508184
RGD:40818077 RGD:5144223
NCBI chrNW_004955470:7,779,828...7,849,157
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Il1rn
interleukin 1 receptor antagonist
ISO
RGD
PMID:18322242 PMID:18596024
RGD:4143205 RGD:4143206
NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
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Il6
interleukin 6
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chrNW_004955410:25,079,835...25,084,390
G
Irak3
interleukin 1 receptor associated kinase 3
ISO
RGD
PMID:20439918 PMID:28120642
RGD:34888234 RGD:36049799
NCBI chrNW_004955458:12,839,995...12,880,285
Ensembl chrNW_004955458:12,846,237...12,879,316
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Irf1
interferon regulatory factor 1
ISO
RGD
PMID:11854220
RGD:5128725
NCBI chrNW_004955408:3,882,282...3,887,965
Ensembl chrNW_004955408:3,880,155...3,887,973
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Irf3
interferon regulatory factor 3
ISO
RGD
PMID:20720199
RGD:4891951
NCBI chrNW_004955559:1,223,986...1,228,671
Ensembl chrNW_004955559:1,224,874...1,228,624
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Itgb3
integrin subunit beta 3
ISO
protein:increased expression:lung, neutrophil
RGD
PMID:15114484
RGD:4993468
NCBI chrNW_004955478:9,788,192...9,830,254
Ensembl chrNW_004955478:9,788,149...9,823,746
G
Lep
leptin
ISO
RGD
PMID:11937559
RGD:5128871
NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472
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Mapk8
mitogen-activated protein kinase 8
severity
ISO
associated with Escherichia Coli Infections
RGD
PMID:22514650
RGD:150340681
NCBI chrNW_004955556:1,593,552...1,705,543
Ensembl chrNW_004955556:1,593,494...1,665,784
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Mbl2
mannose binding lectin 2
ISO
Legionella Pneumonia; DNA:mutations:5' utr, exon:multiple (human)
RGD
PMID:18641104
RGD:4889477
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:bronchoalveolar lavage fluid
RGD
PMID:17202364 PMID:19535150
RGD:5129533 RGD:5130727
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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Mpo
myeloperoxidase
ISO
protein:increased activity:bronchoalveolar lavage Fluid:
RGD
PMID:11269653
RGD:5130992
NCBI chrNW_004955451:4,743,744...4,753,358
Ensembl chrNW_004955451:4,743,744...4,753,358
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Nod1
nucleotide binding oligomerization domain containing 1
ISO
RGD
PMID:19360122
RGD:5131449
NCBI chrNW_004955410:31,681,191...31,725,173
Ensembl chrNW_004955410:31,681,077...31,725,173
G
Nod2
nucleotide binding oligomerization domain containing 2
ISO
RGD
PMID:19360122
RGD:5131449
NCBI chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710
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Pdpn
podoplanin
ISO
protein:increased expression:lung
RGD
PMID:7864138
RGD:2292375
NCBI chrNW_004955527:4,183,639...4,215,200
G
Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:lung
RGD
PMID:12524254
RGD:724645
NCBI chrNW_004955478:7,448,584...7,531,860
Ensembl chrNW_004955478:7,478,492...7,531,188
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Pgf
placental growth factor
ISO
protein:increased expression:plasma
RGD
PMID:16702604
RGD:6483601
NCBI chrNW_004955523:616,196...627,055
Ensembl chrNW_004955523:616,154...627,713
G
Pten
phosphatase and tensin homolog
ameliorates
ISO
myeloid knockout
RGD
PMID:21527775
RGD:127285594
NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
G
Ripk3
receptor interacting serine/threonine kinase 3
ameliorates
ISO
RGD
PMID:28387756
RGD:127229944
NCBI chrNW_004955409:35,961,604...35,965,477
Ensembl chrNW_004955409:35,937,880...35,965,712
G
Rorc
RAR related orphan receptor C
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chrNW_004955589:590,653...616,784
Ensembl chrNW_004955589:590,743...616,694
G
Serpine1
serpin family E member 1
severity
ISO
RGD
PMID:17032919
RGD:4144840
NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
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Sftpb
surfactant protein B
ISO
protein:increased expression:lung associated with Cystic Fibrosis;protein:increased expression:lung
RGD
PMID:12169586 PMID:15271694
RGD:4143403 RGD:4143464
NCBI chrNW_004955424:1,849,313...1,858,087
Ensembl chrNW_004955424:1,849,314...1,858,087
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Sftpc
surfactant protein C
ISO
RGD
PMID:12169586 PMID:18566429
RGD:4143464 RGD:4144114
NCBI chrNW_004955403:45,649,149...45,651,421
Ensembl chrNW_004955403:45,649,122...45,651,837
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Sftpd
surfactant protein D
ISO
associated with Cystic Fibrosis;protein:decreased expression:lung protein:increased expression:lung
RGD
PMID:12169586 PMID:15271694
RGD:4143403 RGD:4143464
NCBI chrNW_004955510:213,468...226,096
Ensembl chrNW_004955510:213,438...225,896
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Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:18192501
RGD:6892945
NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
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Tgfb1
transforming growth factor beta 1
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
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Tlr2
toll like receptor 2
ISO
RGD
PMID:18768871 PMID:19844782
RGD:4145337 RGD:4889533
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tlr4
toll like receptor 4
ISO
RGD
PMID:16210672 PMID:20650991
RGD:4144172 RGD:4144197
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Tlr5
toll like receptor 5
ISO
RGD
PMID:19801452
RGD:5129503
NCBI chrNW_004955520:1,544,840...1,562,081
Ensembl chrNW_004955520:1,556,523...1,559,093
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Tlr6
toll like receptor 6
ISO
RGD
PMID:19844782
RGD:4889533
NCBI chrNW_004955443:8,401,461...8,427,175
Ensembl chrNW_004955443:8,422,534...8,424,942
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Tlr9
toll like receptor 9
ISO
RGD
PMID:20360853
RGD:5130719
NCBI chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582
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Tnf
tumor necrosis factor
treatment disease_progression severity
ISO
associated with Agranulocytosis
RGD
PMID:7546648 PMID:9310939 PMID:10650487 PMID:12958055
RGD:10449451 RGD:10450564 RGD:10755357 RGD:4143476
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
protein:increased expression:serum (mouse)
RGD
PMID:19842848
RGD:5131429
NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
protein:increased expression:serum (mouse)
RGD
PMID:19842848
RGD:5131429
NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362
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Zc3h12a
zinc finger CCCH-type containing 12A
ISO
associated with Pseudomonas Infections
RGD
PMID:29695841
RGD:39938967
NCBI chrNW_004955452:15,306,398...15,314,959
Ensembl chrNW_004955452:15,305,775...15,314,959
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Mbl2
mannose binding lectin 2
ISO
DNA:SNP:cds:
RGD
PMID:17470593
RGD:8693700
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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C3
complement C3
ISO
protein:increased expression:serum
RGD
PMID:3361150
RGD:11041575
NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
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Cfb
complement factor B
ISO
protein:increased expression:serum
RGD
PMID:3361150
RGD:11041575
NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:14507644
RGD:5135450
NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:14507644
RGD:5135450
NCBI chrNW_004955433:724,566...731,945
Ensembl chrNW_004955433:724,515...732,192
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:16923792
RGD:39457937
NCBI chrNW_004955458:3,946,964...3,949,180
Ensembl chrNW_004955458:3,947,803...3,949,312
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Il4
interleukin 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17387165
NCBI chrNW_004955408:4,058,052...4,065,999
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Birc2
baculoviral IAP repeat containing 2
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chrNW_004955412:5,658,322...5,685,628
Ensembl chrNW_004955412:5,659,478...5,685,114
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Birc3
baculoviral IAP repeat containing 3
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chrNW_004955412:5,624,865...5,643,520
Ensembl chrNW_004955412:5,628,973...5,643,410
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Cxcl8
C-X-C motif chemokine ligand 8
susceptibility
ISO
DNA:SNP:promoter:g.-251A>T (human)
RGD
PMID:24076593
RGD:150523788
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Ifng
interferon gamma
treatment
ISO
RGD
PMID:27916101
RGD:14974260
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Npc1
NPC intracellular cholesterol transporter 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12183525
NCBI chrNW_004955402:11,699,434...11,742,899
Ensembl chrNW_004955402:11,699,434...11,742,899
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Pde4a
phosphodiesterase 4A
ISO
mRNA:decreased expression:spleen
RGD
PMID:17397885
RGD:2302429
NCBI chrNW_004955495:1,659,499...1,693,609
Ensembl chrNW_004955495:1,663,011...1,691,810
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Prdx5
peroxiredoxin 5
ISO
mRNA:increased expression:spleen (mouse)
RGD
PMID:31196623
RGD:41404681
NCBI chrNW_004955422:20,763,822...20,766,976
Ensembl chrNW_004955422:20,761,495...20,766,976
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29203515 PMID:30894428
RGD:39128199 RGD:39128234
NCBI chrNW_004955418:1,091,022...1,097,064
Ensembl chrNW_004955418:1,083,613...1,100,448
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Slc11a1
solute carrier family 11 member 1
susceptibility
ISO
ClinVar Annotator: match by term: Buruli ulcer, susceptibility to
OMIM ClinVar
PMID:16395392
NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:27322540 PMID:27385977
RGD:39457954 RGD:39458040
NCBI chrNW_004955458:3,946,964...3,949,180
Ensembl chrNW_004955458:3,947,803...3,949,312
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
treatment
ISO
RGD
PMID:23180818
RGD:38599193
NCBI chrNW_004955410:11,402,476...11,433,335
Ensembl chrNW_004955410:11,402,520...11,437,422
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Slc11a1
solute carrier family 11 member 1
ISO
RGD
PMID:18656410
RGD:5684976
NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608
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Cd40
CD40 molecule
ISO
RGD
PMID:20102413
RGD:5132268
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
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Foxp3
forkhead box P3
treatment
ISO
RGD
PMID:30832593
RGD:38455984
NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
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Icam1
intercellular adhesion molecule 1
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:19728926
RGD:4145507
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
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Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:30832593 PMID:31249813
RGD:38455984 RGD:39938856
NCBI chrNW_004955536:2,944,770...2,955,829
Ensembl chrNW_004955536:2,943,611...2,955,829
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19203382
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Il13
interleukin 13
ISO
RGD
PMID:21573182
RGD:5684365
NCBI chrNW_004955408:4,046,406...4,049,795
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Il17a
interleukin 17A
ISO
associated with Bronchial Hyprractivity; mRNA:increased expression:lung
RGD
PMID:19812198 PMID:20228193
RGD:4888528 RGD:4889101
NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
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Tgfb1
transforming growth factor beta 1
treatment
ISO
RGD
PMID:30832593
RGD:38455984
NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19203382
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Cd274
CD274 molecule
ISO
mRNA:increased expression:lung
RGD
PMID:26378990
RGD:41412180
NCBI chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904
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Pdcd1
programmed cell death 1
ISO
mRNA:increased expression:lung
RGD
PMID:26378990
RGD:41412180
NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
severity
ISO
RGD
PMID:29893841
RGD:40890270
NCBI chrNW_004955486:3,813,923...3,837,563
Ensembl chrNW_004955486:3,813,923...3,838,119
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Plac8
placenta associated 8
exacerbates
ISO
RGD
PMID:22238459
RGD:40925930
NCBI chrNW_004955474:6,518,459...6,533,251
Ensembl chrNW_004955474:6,522,204...6,534,312
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Pten
phosphatase and tensin homolog
ISO
associated with Experimental Allergic Asthma;mRNA:decreased expression:lung (mouse)
RGD
PMID:27448447
RGD:41404696
NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
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Hdc
histidine decarboxylase
ISO
RGD
PMID:14556983
RGD:5143922
NCBI chrNW_004955409:4,051,574...4,072,641
Ensembl chrNW_004955409:4,051,271...4,072,642
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Mmp14
matrix metallopeptidase 14
ISO
RGD
PMID:12526080
RGD:1582580
NCBI chrNW_004955409:37,438,924...37,448,704
Ensembl chrNW_004955409:37,440,541...37,448,437
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:12526080
RGD:1582580
NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
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Duox2
dual oxidase 2
treatment
ISO
RGD
PMID:29133347
RGD:40925924
NCBI chrNW_004955409:8,270,657...8,288,201
Ensembl chrNW_004955409:8,271,164...8,287,096
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Acyp2
acylphosphatase 2
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chrNW_004955415:32,510,613...32,511,105
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Il1r1
interleukin 1 receptor type 1
ISO
ClinVar Annotator: match by term: Chronic multifocal osteomyelitis
ClinVar
NCBI chrNW_004955470:7,685,498...7,703,374
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Mlkl
mixed lineage kinase domain like pseudokinase
ISO
ClinVar Annotator: match by term: Chronic multifocal osteomyelitis
ClinVar
NCBI chrNW_004955484:2,793,092...2,819,481
Ensembl chrNW_004955484:2,796,995...2,818,844
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Mynn
myoneurin
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chrNW_004955420:32,200...44,127
Ensembl chrNW_004955420:32,200...44,127
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Pstpip2
proline-serine-threonine phosphatase interacting protein 2
ISO
OMIM:259680
MouseDO
NCBI chrNW_004955402:31,538,335...31,637,901
Ensembl chrNW_004955402:31,536,822...31,637,512
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Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
PMID:16890917 PMID:28492532
NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589
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Zbtb46
zinc finger and BTB domain containing 46
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chrNW_004955528:438,826...485,484
Ensembl chrNW_004955528:438,859...475,543
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Il1f10
interleukin 1 family member 10
ISO
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
ClinVar
PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 PMID:28492532 More...
NCBI chrNW_004955470:1,198,185...1,206,032
Ensembl chrNW_004955470:1,198,134...1,206,199
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Il1rn
interleukin 1 receptor antagonist
ISO
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
OMIM ClinVar
PMID:9536098 PMID:12837270 PMID:16199547 PMID:16519819 PMID:17576681 PMID:19280228 PMID:19494218 PMID:19494219 PMID:19729864 PMID:20213597 PMID:20842532 PMID:21279638 PMID:21792839 PMID:22032624 PMID:22127713 PMID:22940634 PMID:23698098 PMID:24033266 PMID:24863340 PMID:25501066 PMID:25741868 PMID:26100510 PMID:28236224 PMID:28492532 PMID:32819369 More...
NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
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Il36rn
interleukin 36 receptor antagonist
ISO
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
ClinVar
PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 PMID:28492532 More...
NCBI chrNW_004955470:1,209,389...1,214,730
Ensembl chrNW_004955470:1,209,325...1,214,821
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Nfkbia
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
ClinVar
NCBI chrNW_004955409:25,691,673...25,695,151
Ensembl chrNW_004955409:25,691,534...25,697,520
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Il1r1
interleukin 1 receptor type 1
ISO
OMIM
NCBI chrNW_004955470:7,685,498...7,703,374
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Il23a
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:26455347
RGD:11097134
NCBI chrNW_004955458:3,946,964...3,949,180
Ensembl chrNW_004955458:3,947,803...3,949,312
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Il33
interleukin 33
treatment severity
ISO
RGD
PMID:32156806
RGD:40400894
NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948
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Il27
interleukin 27
ISO
associated with diarrhea;protein:increased expression:blood��serum, feces (human)
RGD
PMID:29140433
RGD:126790495
NCBI chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417
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Marco
macrophage receptor with collagenous structure
exacerbates
ISO
RGD
PMID:20810988
RGD:41412193
NCBI chrNW_004955459:10,700,645...10,739,222
Ensembl chrNW_004955459:10,698,294...10,739,131
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:SNP:exon:p.G54D(rs1800450)(human)
RGD
PMID:15249448
RGD:8693755
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
protein:decreased expression:bronchiole epithelium
RGD
PMID:15364771
RGD:7364741
NCBI chrNW_004955476:11,061,405...11,084,294
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Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
DNA:insertion/deletion
RGD
PMID:15709052
RGD:7349353
NCBI chrNW_004955476:11,021,665...11,049,239
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Mucl3
mucin like 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22152429
NCBI chrNW_004955583:880,011...882,770
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Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphisms:exon:
RGD
PMID:10323341
RGD:5147847
NCBI chrNW_004955437:1,480,217...1,499,032
Ensembl chrNW_004955437:1,477,341...1,498,575
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Casp3
caspase 3
treatment
ISO
RGD
PMID:26920733
RGD:13782281
NCBI chrNW_004955403:24,315,712...24,326,271
G
Casp6
caspase 6
treatment
ISO
RGD
PMID:26920733
RGD:13782281
NCBI chrNW_004955496:575,839...584,287
Ensembl chrNW_004955496:577,832...584,287
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Casp7
caspase 7
treatment
ISO
RGD
PMID:26920733
RGD:13782281
NCBI chrNW_004955431:18,685,408...18,723,221
Ensembl chrNW_004955431:18,686,190...18,723,524
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Casp9
caspase 9
treatment
ISO
RGD
PMID:26920733
RGD:13782281
NCBI chrNW_004955527:2,613,691...2,630,217
Ensembl chrNW_004955527:2,613,683...2,629,738
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Il1a
interleukin 1 alpha
ISO
protein:increased expression:endometrium
RGD
PMID:25330821
RGD:11059518
NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
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Abcb1
ATP binding cassette subfamily B member 1
ISO
mRNA:decreased expression:liver (rat)
RGD
PMID:26977098
RGD:11041000
NCBI chrNW_004955432:4,911,774...5,085,349
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Abcb11
ATP binding cassette subfamily B member 11
ISO
RGD
PMID:9828229
RGD:1598596
NCBI chrNW_004955449:5,412,958...5,511,629
Ensembl chrNW_004955449:5,412,876...5,512,701
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Abcc2
ATP binding cassette subfamily C member 2
ISO
RGD
PMID:16572733
RGD:1598611
NCBI chrNW_004955507:5,724,788...5,791,281
Ensembl chrNW_004955507:5,724,762...5,790,812
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Abcc8
ATP binding cassette subfamily C member 8
ISO
RGD
PMID:17285300
RGD:2301914
NCBI chrNW_004955414:32,216,243...32,289,028
Ensembl chrNW_004955414:32,216,196...32,289,053
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Ache
acetylcholinesterase (Cartwright blood group)
ISO
RGD
PMID:17657467
RGD:5688055
NCBI chrNW_004955573:79,606...85,799
Ensembl chrNW_004955573:80,298...85,799
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Actc1
actin alpha cardiac muscle 1
ISO
RGD
PMID:11680626
RGD:1598729
NCBI chrNW_004955416:2,139,541...2,144,678
Ensembl chrNW_004955416:2,137,101...2,145,416
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Adamts1
ADAM metallopeptidase with thrombospondin type 1 motif 1
ISO
protein:increased expression:plasma, spleen
RGD
PMID:23025351
RGD:9681752
NCBI chrNW_004955407:26,524,487...26,533,038
Ensembl chrNW_004955407:26,524,130...26,533,038
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
associated with Obesity
RGD
PMID:23838384
RGD:8695926
NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
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Adipor2
adiponectin receptor 2
severity
ISO
associated with obesity;mRNA:decreased expression:liver (rat)
RGD
PMID:23838384
RGD:8695926
NCBI chrNW_004955454:4,243,898...4,327,255
Ensembl chrNW_004955454:4,243,898...4,327,308
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Adra2a
adrenoceptor alpha 2A
onset
ISO
mRNA:increased expression:spleen
RGD
PMID:20302880
RGD:6480487
NCBI chrNW_004955485:384,405...387,332
Ensembl chrNW_004955485:385,800...387,240
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Agtr2
angiotensin II receptor type 2
ISO
protein:decreased expression:kidney
RGD
PMID:16725227
RGD:6903849
NCBI chrNW_004955534:3,653,112...3,654,248
Ensembl chrNW_004955534:3,653,157...3,654,248
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Ahr
aryl hydrocarbon receptor
severity
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chrNW_004955410:20,428,531...20,459,482
Ensembl chrNW_004955410:20,428,546...20,456,836
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Akt1
AKT serine/threonine kinase 1
ISO
RGD
PMID:22824368
RGD:38676479
NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904
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Alox5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15328337
NCBI chrNW_004955546:2,495,226...2,550,909
Ensembl chrNW_004955546:2,494,819...2,550,909
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Apoa1
apolipoprotein A1
treatment
ISO
RGD
PMID:18593575 PMID:23227448
RGD:7241573 RGD:7241868
NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298
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Apob
apolipoprotein B
ISO
RGD
PMID:16719989
RGD:1599165
NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424
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Apoe
apolipoprotein E
ISO
rat model treated with human protein
RGD
PMID:9153287
RGD:6904216
NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
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Asl
argininosuccinate lyase
ISO
RGD
PMID:10652239
RGD:1599265
NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992
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Ass1
argininosuccinate synthase 1
ISO
RGD
PMID:10652239
RGD:1599265
NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
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Atf2
activating transcription factor 2
treatment
ISO
protein:increased expression, increased activity:small intestine mucosa
RGD
PMID:21641970 PMID:24312512
RGD:10047418 RGD:5135029
NCBI chrNW_004955449:332,563...411,218
Ensembl chrNW_004955449:338,193...411,218
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Atp5f1a
ATP synthase F1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16741687
NCBI chrNW_004955402:31,652,226...31,662,114
Ensembl chrNW_004955402:31,651,960...31,662,762
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Bax
BCL2 associated X, apoptosis regulator
ISO
mRNA:increased expression:diaphragm
RGD
PMID:23940949
RGD:10054120
NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
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Bche
butyrylcholinesterase
ISO
RGD
PMID:17657467
RGD:5688055
NCBI chrNW_004955448:15,327,374...15,396,827
Ensembl chrNW_004955448:15,329,273...15,396,970
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Bcl2
BCL2 apoptosis regulator
ISO
mRNA:decreased expression:diaphragm
RGD
PMID:23940949
RGD:10054120
NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
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C5ar1
complement C5a receptor 1
ISO
mRNA:increased expression:lung
RGD
PMID:9272704
RGD:70679
NCBI chrNW_004955574:1,221,942...1,229,634
Ensembl chrNW_004955574:1,221,187...1,231,655
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Casp3
caspase 3
ISO
mRNA:increased expression:diaphragm
RGD
PMID:23940949
RGD:10054120
NCBI chrNW_004955403:24,315,712...24,326,271
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Casp7
caspase 7
ISO
RGD
PMID:19168786
RGD:5684539
NCBI chrNW_004955431:18,685,408...18,723,221
Ensembl chrNW_004955431:18,686,190...18,723,524
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Casp9
caspase 9
treatment
ISO
RGD
PMID:23214195
RGD:10400903
NCBI chrNW_004955527:2,613,691...2,630,217
Ensembl chrNW_004955527:2,613,683...2,629,738
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Cbs
cystathionine beta-synthase
severity
ISO
mRNA:increased expression:liver (rat) Protein:increased expression:spleen, lung (mouse)
RGD
PMID:16100527 PMID:24702258 PMID:27748832
RGD:40903019 RGD:40903035 RGD:40903049
NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased expression:plasma
RGD
PMID:16215387
RGD:2307171
NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143
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Cd14
CD14 molecule
ISO
protein:increased expression:liver, endothelial cell of sinusoid
RGD
PMID:12046090
RGD:724637
NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224
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Cd40
CD40 molecule
ISO
protein:decreased nitrosylation:macrophage
RGD
PMID:20473113
RGD:5490974
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
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Cebpb
CCAAT enhancer binding protein beta
treatment
ISO
RGD
PMID:14659593 PMID:15192048
RGD:1625687 RGD:40903034
NCBI chrNW_004955445:8,060,432...8,061,289
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Cps1
carbamoyl-phosphate synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16741687
NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
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Cs
citrate synthase
ISO
protein:increased expression:gastrocnemius
RGD
PMID:25674200
RGD:329337350
NCBI chrNW_004955458:3,881,798...3,913,044
Ensembl chrNW_004955458:3,881,798...3,893,401
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Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:9514298
RGD:11039535
NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
protein:increased expression:atrium endocardium
RGD
PMID:19282612
RGD:4891965
NCBI chrNW_004955433:15,023,272...15,034,650
Ensembl chrNW_004955433:15,023,050...15,034,711
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Edn1
endothelin 1
ISO
mRNA, protein:increased expression:liver (rat)
RGD
PMID:11206318
RGD:8662297
NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753
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Ep300
E1A binding protein p300
ISO
associated with Kidney Reperfusion Injury; protein:altered localization:kidney (rat)
RGD
PMID:23936185
RGD:7257563
NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933
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Ephx2
epoxide hydrolase 2
ISO
RGD
PMID:19154430
RGD:5688360
NCBI chrNW_004955403:49,999,563...50,038,800
Ensembl chrNW_004955403:49,999,563...50,041,572
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Epo
erythropoietin
treatment
ISO
RGD
PMID:23214195
RGD:10400903
NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355
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F12
coagulation factor XII
ISO
RGD
PMID:11092686
RGD:7394782
NCBI chrNW_004955408:29,644,279...29,665,161
Ensembl chrNW_004955408:29,642,096...29,650,950
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F2
coagulation factor II, thrombin
severity treatment
ISO
associated with liver cirrhosis;protein:increased expression:plasma (human) associated with liver cirrhosis;protein:increased expression:blood plasma (human)
RGD
PMID:7615203 PMID:9863491 PMID:10604885 PMID:10887118 PMID:20519137 PMID:21396682 PMID:22227956 PMID:25396762 More...
RGD:10449434 RGD:14401592 RGD:14974253 RGD:40818427 RGD:40818436 RGD:5147765 RGD:5147779 RGD:6893482
NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
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F3
coagulation factor III, tissue factor
treatment
ISO
associated with Protein C Deficiency
RGD
PMID:8956768 PMID:20858853 PMID:21396682
RGD:11340208 RGD:11341685 RGD:5147765
NCBI chrNW_004955423:254,060...264,448
Ensembl chrNW_004955423:254,189...264,159
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F5
coagulation factor V
ISO
RGD
PMID:11092686
RGD:7394782
NCBI chrNW_004955462:7,695,004...7,757,832
Ensembl chrNW_004955462:7,694,939...7,757,463
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F7
coagulation factor VII
treatment
ISO
RGD
PMID:11092686 PMID:16378835
RGD:11041650 RGD:7394782
NCBI chrNW_004955404:685,170...692,797
Ensembl chrNW_004955404:680,594...693,665
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F8
coagulation factor VIII
ISO
RGD
PMID:11092686
RGD:7394782
NCBI chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865
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Fas
Fas cell surface death receptor
ISO
mRNA, protein:increased expression:spleen (rat)
RGD
PMID:20428798
RGD:8662930
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
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Fga
fibrinogen alpha chain
treatment
ISO
RGD
PMID:19295478
RGD:11040925
NCBI chrNW_004955471:8,806,964...8,814,671
Ensembl chrNW_004955471:8,806,650...8,816,791
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Foxp3
forkhead box P3
ISO
protein:increased expression:intestinal mucosa
RGD
PMID:19998507
RGD:38455980
NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
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Gch1
GTP cyclohydrolase 1
treatment
ISO
mRNA:increased expression:lung associated with liver cirrhosis
RGD
PMID:9388472 PMID:14647062 PMID:16845913
RGD:329961576 RGD:401700399 RGD:401793756
NCBI chrNW_004955409:8,624,225...8,670,436
Ensembl chrNW_004955409:8,624,468...8,668,614
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Gfer
growth factor, augmenter of liver regeneration
ISO
RGD
PMID:23073658
RGD:9685733
NCBI chrNW_004955442:15,280,753...15,283,405
Ensembl chrNW_004955442:15,281,419...15,283,266
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Ghr
growth hormone receptor
ISO
mRNA:decreased expression:liver
RGD
PMID:12217886 PMID:12654216
RGD:2307380 RGD:625688
NCBI chrNW_004955426:26,553,509...26,873,619
Ensembl chrNW_004955426:26,689,581...26,871,684
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Gpt
glutamic--pyruvic transaminase
treatment
ISO
RGD
PMID:25514429
RGD:401717525
NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
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Gsr
glutathione-disulfide reductase
treatment
ISO
RGD
PMID:25469663
RGD:10401928
NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583
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Hmgb1
high mobility group box 1
ISO
protein:increased expression:heart, serum
RGD
PMID:18503231
RGD:10402065
NCBI chrNW_004955431:15,373,207...15,377,339
Ensembl chrNW_004955431:15,373,207...15,377,339
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Hmox1
heme oxygenase 1
treatment
ISO
RGD
PMID:21396999
RGD:10755715
NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
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Hsf1
heat shock transcription factor 1
treatment
ISO
RGD
PMID:25571843
RGD:10402404
NCBI chrNW_004955454:2,907,265...2,932,352
Ensembl chrNW_004955454:2,907,265...2,932,351
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Hspa9
heat shock protein family A (Hsp70) member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16741687
NCBI chrNW_004955418:1,915,985...1,931,017
Ensembl chrNW_004955418:1,915,985...1,931,017
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Hspd1
heat shock protein family D (Hsp60) member 1
ISO
mRNA, protein:increased expression:medulla oblongata CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16675490 PMID:16741687
RGD:1624232
NCBI chrNW_004955403:3,062,724...3,073,419
Ensembl chrNW_004955403:3,063,133...3,073,419
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:lung (rat)
RGD
PMID:19776691
RGD:4145502
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:24930766 PMID:28077574
RGD:39939032 RGD:39939117
NCBI chrNW_004955536:2,944,770...2,955,829
Ensembl chrNW_004955536:2,943,611...2,955,829
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Ido2
indoleamine 2,3-dioxygenase 2
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chrNW_004955536:2,894,410...2,938,862
Ensembl chrNW_004955536:2,894,308...2,939,016
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Ifng
interferon gamma
ISO
protein:increased expression:serum:
RGD
PMID:9195172
RGD:10755747
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Igf1
insulin like growth factor 1
ISO
mRNA, protein:decreased expression:liver, serum
RGD
PMID:12217886 PMID:18492809
RGD:10402757 RGD:625688
NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
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Igfals
insulin like growth factor binding protein acid labile subunit
ISO
RGD
PMID:12217886
RGD:625688
NCBI chrNW_004955442:15,469,602...15,482,115
Ensembl chrNW_004955442:15,478,202...15,482,115
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Igfbp1
insulin like growth factor binding protein 1
ISO
RGD
PMID:12217886
RGD:625688
NCBI chrNW_004955456:6,810,461...6,814,944
Ensembl chrNW_004955456:6,810,056...6,815,685
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Igfbp3
insulin like growth factor binding protein 3
ISO
mRNA, protein:decreased expression:liver, serum
RGD
PMID:18492809
RGD:10402757
NCBI chrNW_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845
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Igfbp5
insulin like growth factor binding protein 5
ISO
RGD
PMID:12217886
RGD:625688
NCBI chrNW_004955453:16,530,110...16,550,733
Ensembl chrNW_004955453:16,530,110...16,550,733
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Il10
interleukin 10
treatment
ISO
protein:increased expression:plasma
RGD
PMID:19302852 PMID:27943364 PMID:28664613
RGD:14975137 RGD:14975170 RGD:2311055
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Il13
interleukin 13
treatment
ISO
RGD
PMID:10674721
RGD:8549626
NCBI chrNW_004955408:4,046,406...4,049,795
G
Il1a
interleukin 1 alpha
ISO
protein:increased expression:plasma
RGD
PMID:9636192 PMID:22426124
RGD:6907109 RGD:7794786
NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
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Il1b
interleukin 1 beta
ISO
protein:increased expression:plasma
RGD
PMID:17201737
RGD:1626625
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Il1rn
interleukin 1 receptor antagonist
treatment
ISO
mRNA:increased expression:lung, spleen, liver (rat)
RGD
PMID:1385928 PMID:8855299
RGD:11522760 RGD:8551846
NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
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Il6
interleukin 6
ISO
associated with Diabetes Mellitus, Experimental; Protein:increased expression:extracellular space (rat) protein:increased expression:serum (rat)
RGD
PMID:19449282 PMID:21396682 PMID:22227956
RGD:2307179 RGD:5147765 RGD:6893482
NCBI chrNW_004955410:25,079,835...25,084,390
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Irak3
interleukin 1 receptor associated kinase 3
ISO
mRNA, protein:increased expression:blood (human)
RGD
PMID:17982103
RGD:36049802
NCBI chrNW_004955458:12,839,995...12,880,285
Ensembl chrNW_004955458:12,846,237...12,879,316
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Irs1
insulin receptor substrate 1
ISO
protein:increased tyrosine nitration, decreased tyrosine phosphorylation:skeletal muscle
RGD
PMID:21206533
RGD:6483008
NCBI chrNW_004955453:7,685,715...7,742,262
Ensembl chrNW_004955453:7,685,715...7,742,262
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Itga2b
integrin subunit alpha 2b
ISO
RGD
PMID:15280099
RGD:2316360
NCBI chrNW_004955451:17,381,323...17,392,122
Ensembl chrNW_004955451:17,382,779...17,391,859
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Itgb3
integrin subunit beta 3
ISO
RGD
PMID:15280099
RGD:2316360
NCBI chrNW_004955478:9,788,192...9,830,254
Ensembl chrNW_004955478:9,788,149...9,823,746
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Keap1
kelch like ECH associated protein 1
ISO
RGD
PMID:22609006
RGD:6892951
NCBI chrNW_004955495:1,704,695...1,711,339
Ensembl chrNW_004955495:1,704,695...1,711,290
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Map2
microtubule associated protein 2
ISO
mRNA, protein:decreased expression:neuron
RGD
PMID:21421895
RGD:6483086
NCBI chrNW_004955457:5,678,826...5,816,114
Ensembl chrNW_004955457:5,678,436...5,875,024
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Mapk14
mitogen-activated protein kinase 14
treatment
ISO
protein:increased activity:small intestine mucosa
RGD
PMID:21641970 PMID:24312512
RGD:10047418 RGD:5135029
NCBI chrNW_004955437:3,836,331...3,884,083
Ensembl chrNW_004955437:3,838,232...3,884,083
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Mapk8
mitogen-activated protein kinase 8
ISO
protein:increased phophorylation:hippocampus (rat)
RGD
PMID:12207162
RGD:150340687
NCBI chrNW_004955556:1,593,552...1,705,543
Ensembl chrNW_004955556:1,593,494...1,665,784
G
Mc4r
melanocortin 4 receptor
ISO
mRNA:increased expression:paraventricular nucleus (rat)
RGD
PMID:21343543
RGD:6484214
NCBI chrNW_004955402:44,453,973...44,456,689
Ensembl chrNW_004955402:44,455,294...44,456,292
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Mif
macrophage migration inhibitory factor
ISO
protein:increased expression:plasma
RGD
PMID:16601957
RGD:1641983
NCBI chrNW_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460
G
Mme
membrane metalloendopeptidase
severity
ISO
RGD
PMID:11078421
RGD:13801040
NCBI chrNW_004955448:6,193,113...6,311,666
Ensembl chrNW_004955448:6,226,059...6,314,949
G
Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:19099858
RGD:7349370
NCBI chrNW_004955476:11,108,826...11,135,697
Ensembl chrNW_004955476:11,108,826...11,135,697
G
Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
ISO
RGD
PMID:26646455
RGD:42722616
NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944
G
Nfkbia
NFKB inhibitor alpha
exacerbates treatment
ISO
RGD
PMID:10229101 PMID:19098124
RGD:126908017 RGD:126928139
NCBI chrNW_004955409:25,691,673...25,695,151
Ensembl chrNW_004955409:25,691,534...25,697,520
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:intestine
CTD RGD
PMID:12620498 PMID:16787348 PMID:20519137
RGD:4891470 RGD:5147779
NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
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Nos3
nitric oxide synthase 3
ISO
protein:increased expression:aorta (rat)
RGD
PMID:10462376
RGD:7794732
NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
G
Npy
neuropeptide Y
treatment
ISO
RGD
PMID:15342191
RGD:1580787
NCBI chrNW_004955410:26,348,388...26,355,232
Ensembl chrNW_004955410:26,348,504...26,355,297
G
Nr3c1
nuclear receptor subfamily 3 group C member 1
ISO
RGD
PMID:15640646
RGD:4892561
NCBI chrNW_004955415:10,494,704...10,585,778
Ensembl chrNW_004955415:10,494,640...10,586,221
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Otc
ornithine transcarbamylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16741687
NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
G
Pck1
phosphoenolpyruvate carboxykinase 1
ISO
RGD
PMID:12217886 PMID:19268478
RGD:10427879 RGD:625688
NCBI chrNW_004955445:1,909,012...1,914,032
Ensembl chrNW_004955445:1,908,946...1,915,002
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Pck2
phosphoenolpyruvate carboxykinase 2, mitochondrial
ISO
mRNA,protein:decreased expression,decreased activity:liver:
RGD
PMID:19268478
RGD:10427879
NCBI chrNW_004955409:36,288,402...36,296,761
Ensembl chrNW_004955409:36,288,568...36,296,828
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Pcsk1
proprotein convertase subtilisin/kexin type 1
ISO
RGD
PMID:16337011
RGD:6483567
NCBI chrNW_004955418:16,181,809...16,224,274
Ensembl chrNW_004955418:16,181,771...16,224,603
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Pcsk2
proprotein convertase subtilisin/kexin type 2
ISO
RGD
PMID:16337011
RGD:6483567
NCBI chrNW_004955415:26,266,513...26,496,905
Ensembl chrNW_004955415:26,266,484...26,497,001
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
RGD
PMID:22119535
RGD:6771174
NCBI chrNW_004955478:7,448,584...7,531,860
Ensembl chrNW_004955478:7,478,492...7,531,188
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Pgf
placental growth factor
ISO
protein:increased expression:multiple
RGD
PMID:16702604
RGD:6483601
NCBI chrNW_004955523:616,196...627,055
Ensembl chrNW_004955523:616,154...627,713
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Pla2g7
phospholipase A2 group VII
ISO
protein:increased expression: :
RGD
PMID:10748027
RGD:7248791
NCBI chrNW_004955437:11,534,251...11,577,942
Ensembl chrNW_004955437:11,534,173...11,555,996
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Plat
plasminogen activator, tissue type
treatment
ISO
RGD
PMID:9091588
RGD:11541073
NCBI chrNW_004955536:730,962...754,333
Ensembl chrNW_004955536:730,981...756,394
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Pparg
peroxisome proliferator activated receptor gamma
ISO
protein:increased expression:small intestine mucosa
RGD
PMID:21641970
RGD:5135029
NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387
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Prkaa1
protein kinase AMP-activated catalytic subunit alpha 1
ISO
mRNA:decreased expression:epididymal fat pad
RGD
PMID:20421294
RGD:6484543
NCBI chrNW_004955426:25,079,718...25,102,090
Ensembl chrNW_004955426:25,079,718...25,102,090
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
protein:increased expression:liver, mitochondrion (mouse)
RGD
PMID:28615325
RGD:13432559
NCBI chrNW_004955439:18,664,230...19,953,358
Ensembl chrNW_004955439:18,664,379...19,951,152
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
treatment
ISO
RGD
PMID:18205901 PMID:23170801
RGD:11100030 RGD:11100034
NCBI chrNW_004955459:3,097,229...3,105,566
Ensembl chrNW_004955459:3,094,120...3,104,135
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Ptafr
platelet activating factor receptor
treatment
ISO
RGD
PMID:2178565
RGD:10041063
NCBI chrNW_004955452:7,309,854...7,345,579
Ensembl chrNW_004955452:7,311,901...7,312,929
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Ptger4
prostaglandin E receptor 4
ISO
protein:increased expression:paraventricular hypothalamic nucleus parvicellular division (rat)
RGD
PMID:11058222
RGD:10043329
NCBI chrNW_004955426:24,997,811...25,010,822
Ensembl chrNW_004955426:24,997,811...25,010,822
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Ptgis
prostaglandin I2 synthase
treatment
ISO
RGD
PMID:11076704
RGD:401960076
NCBI chrNW_004955445:8,624,228...8,663,385
Ensembl chrNW_004955445:8,623,430...8,677,658
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:21641970
RGD:5135029
NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
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Ren
renin
ISO
protein:increased activity:blood plasma (rat) protein:increased activity:blood plasma (mouse)
RGD
PMID:16512638 PMID:30027346
RGD:125097481 RGD:125097499
NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286
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Serpinc1
serpin family C member 1
treatment
ISO
RGD
PMID:15995859 PMID:16457847 PMID:20519137 PMID:21396682
RGD:1599326 RGD:1599332 RGD:5147765 RGD:5147779
NCBI chrNW_004955406:14,024,183...14,036,206
Ensembl chrNW_004955406:14,024,313...14,035,948
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Serpine1
serpin family E member 1
treatment
ISO
RGD
PMID:21396682 PMID:25396762
RGD:10449434 RGD:5147765
NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
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Serpinf1
serpin family F member 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:12386642
RGD:36174005
NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241
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Serping1
serpin family G member 1
treatment
ISO
RGD
PMID:18652771
RGD:8661643
NCBI chrNW_004955511:2,545,337...2,557,850
Ensembl chrNW_004955511:2,545,285...2,557,982
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Slc18a3
solute carrier family 18 member A3
ISO
protein:decreased expression:parietal cortex
RGD
PMID:17306796
RGD:5686693
NCBI chrNW_004955556:696,779...698,869
Ensembl chrNW_004955556:696,974...698,566
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Slc22a2
solute carrier family 22 member 2
treatment
ISO
RGD
PMID:18313662
RGD:7243881
NCBI chrNW_004955439:20,567,241...20,608,281
Ensembl chrNW_004955439:20,567,212...20,609,105
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Slc38a3
solute carrier family 38 member 3
ISO
RGD
PMID:20036385
RGD:9999227
NCBI chrNW_004955532:2,023,694...2,046,556
Ensembl chrNW_004955532:2,023,694...2,050,708
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Slc38a5
solute carrier family 38 member 5
ISO
RGD
PMID:20036385
RGD:9999227
NCBI chrNW_004955543:15,968...24,644
Ensembl chrNW_004955543:16,089...24,668
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Slc7a5
solute carrier family 7 member 5
ISO
RGD
PMID:26337286
RGD:151361133
NCBI chrNW_004955541:2,103,437...2,129,668
Ensembl chrNW_004955541:2,103,384...2,130,310
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Socs1
suppressor of cytokine signaling 1
ISO
mRNA:increased expression:liver, skeletal muscle
RGD
PMID:15169905
RGD:2298923
NCBI chrNW_004955442:7,321,337...7,323,109
Ensembl chrNW_004955442:7,321,337...7,323,109
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Socs3
suppressor of cytokine signaling 3
ISO
mRNA:increased expression:liver, skeletal muscle
RGD
PMID:12217886 PMID:15169905
RGD:2298923 RGD:625688
NCBI chrNW_004955506:4,222,455...4,225,563
Ensembl chrNW_004955506:4,222,455...4,225,563
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16741687
NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
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Sparc
secreted protein acidic and cysteine rich
ISO
mRNA, protein:decreased expression:kidney
RGD
PMID:10703670
RGD:2300026
NCBI chrNW_004955408:6,100,123...6,122,460
Ensembl chrNW_004955408:6,099,003...6,122,459
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Stat5b
signal transducer and activator of transcription 5B
ISO
protein:decreased tyrosine phosphorylation:liver
RGD
PMID:17327369
RGD:1601383
NCBI chrNW_004955451:16,253,645...16,295,337
Ensembl chrNW_004955451:16,255,398...16,272,214
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Tbxa2r
thromboxane A2 receptor
ISO
RGD
PMID:2580129 PMID:15647606
RGD:11059531 RGD:1601450
NCBI chrNW_004955495:5,539,382...5,557,441
Ensembl chrNW_004955495:5,539,889...5,557,441
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Tbxas1
thromboxane A synthase 1
ISO
RGD
PMID:15647606
RGD:1601450
NCBI chrNW_004955494:3,161,032...3,321,974
Ensembl chrNW_004955494:3,160,653...3,334,411
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Tdo2
tryptophan 2,3-dioxygenase
severity
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chrNW_004955471:11,229,795...11,245,255
Ensembl chrNW_004955471:11,229,273...11,245,375
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Tfpi
tissue factor pathway inhibitor
treatment
ISO
RGD
PMID:17537762
RGD:11062086
NCBI chrNW_004955403:10,925,155...11,004,229
Ensembl chrNW_004955403:10,924,893...11,004,284
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Thbd
thrombomodulin
ISO
mRNA:decreased expression:endothelial cell
RGD
PMID:12611420 PMID:19487933 PMID:20348393
RGD:1601652 RGD:5684988 RGD:5685037
NCBI chrNW_004955415:30,222,830...30,226,406
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Timp3
TIMP metallopeptidase inhibitor 3
ISO
RGD
PMID:17083784
RGD:2290426
NCBI chrNW_004955405:41,613,976...41,655,813
Ensembl chrNW_004955405:41,613,966...41,655,813
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Tlr2
toll like receptor 2
treatment
ISO
RGD
PMID:22172266
RGD:7241094
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tlr4
toll like receptor 4
treatment disease_progression
ISO
mRNA:increased expression:liver:
RGD
PMID:22172266 PMID:23977376
RGD:14697731 RGD:7241094
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Tnf
tumor necrosis factor
treatment
ISO
XCO:0000822 JTE-607 associated with liver cirrhosis protein:increased expression:plasma (rat)
RGD
PMID:8283134 PMID:10493164 PMID:12813371 PMID:15242491 PMID:17324147 PMID:18078960 PMID:20519137 PMID:21396682 More...
RGD:14995427 RGD:14995443 RGD:15023464 RGD:38501090 RGD:40903016 RGD:4891465 RGD:5147765 RGD:5147779
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Vcam1
vascular cell adhesion molecule 1
ISO
mRNA:increased expression:brain:
RGD
PMID:20061033
RGD:7240511
NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691
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Vwf
von Willebrand factor
ISO
protein:increased expression:endothelial cell:
RGD
PMID:2650559
RGD:11079230
NCBI chrNW_004955413:3,672,470...3,825,588
Ensembl chrNW_004955413:3,672,470...3,819,571
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Gch1
GTP cyclohydrolase 1
treatment
ISO
RGD
PMID:8602831
RGD:329961578
NCBI chrNW_004955409:8,624,225...8,670,436
Ensembl chrNW_004955409:8,624,468...8,668,614
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Htr2a
5-hydroxytryptamine receptor 2A
treatment
ISO
RGD
PMID:19318092
RGD:401901206
NCBI chrNW_004955431:583,165...646,991
Ensembl chrNW_004955431:580,713...647,345
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Csf3
colony stimulating factor 3
ISO
RGD
PMID:9835289
RGD:11039473
NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
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Fgf7
fibroblast growth factor 7
ISO
mRNA:increased expression:distal colon (mouse)
RGD
PMID:10338516
RGD:126928149
NCBI chrNW_004955409:4,633,542...4,686,768
Ensembl chrNW_004955409:4,632,858...4,686,860
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Abcb1
ATP binding cassette subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24498193
NCBI chrNW_004955432:4,911,774...5,085,349
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Irak3
interleukin 1 receptor associated kinase 3
treatment
ISO
RGD
PMID:27832756
RGD:34888235
NCBI chrNW_004955458:12,839,995...12,880,285
Ensembl chrNW_004955458:12,846,237...12,879,316
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Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:23798529
RGD:7349358
NCBI chrNW_004955476:11,108,826...11,135,697
Ensembl chrNW_004955476:11,108,826...11,135,697
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Ntrk2
neurotrophic receptor tyrosine kinase 2
onset
ISO
protein:decreased expression:hippocampus
RGD
PMID:21411668
RGD:5684914
NCBI chrNW_004955432:2,284,283...2,629,631
Ensembl chrNW_004955432:2,288,898...2,630,878
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Plac8
placenta associated 8
severity
ISO
RGD
PMID:17404296
RGD:40924563
NCBI chrNW_004955474:6,518,459...6,533,251
Ensembl chrNW_004955474:6,522,204...6,534,312
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Rnasel
ribonuclease L
severity
ISO
RGD
PMID:19075243
RGD:40902812
NCBI chrNW_004955406:21,413,950...21,424,860
Ensembl chrNW_004955406:21,411,980...21,425,052
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Slc6a4
solute carrier family 6 member 4
ISO
RGD
PMID:19747920
RGD:36947380
NCBI chrNW_004955481:3,088,440...3,122,421
Ensembl chrNW_004955481:3,088,416...3,125,711
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum (rat)
RGD
PMID:9466473
RGD:38508904
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tlr2
toll like receptor 2
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tlr4
toll like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Tlr7
toll like receptor 7
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chrNW_004955544:424,897...443,562
Ensembl chrNW_004955544:424,850...443,564
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Comt
catechol-O-methyltransferase
severity
ISO
DNA:missense mutation:cds: (rs4680) (human)
RGD
PMID:20184498
RGD:8662334
NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
DNA:SNP:promoter:g.-251T>A (human)
RGD
PMID:17709521
RGD:150523787
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Tlr2
toll like receptor 2
ISO
mRNA:increased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tlr4
toll like receptor 4
ISO
mRNA:decreased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
protein:increased expression:serum (human)
RGD
PMID:16001981
RGD:39939055
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Ereg
epiregulin
susceptibility
ISO
DNA:SNP:exon 4: (rs2367707) (human)
RGD
PMID:30634928
RGD:39457687
NCBI chrNW_004955474:612,440...627,606
Ensembl chrNW_004955474:612,440...627,606
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Ncstn
nicastrin
ISO
ClinVar Annotator: match by term: Acne inversa, familial, 1 | ClinVar Annotator: match by term: NCSTN-related condition
OMIM ClinVar
PMID:20929727 PMID:21412258 PMID:22358060 PMID:25693063 PMID:25741868 PMID:26463457 PMID:28492532 PMID:32926179 More...
NCBI chrNW_004955468:12,111,078...12,126,404
Ensembl chrNW_004955468:12,111,078...12,127,033
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Psenen
presenilin enhancer, gamma-secretase subunit
ISO
ClinVar Annotator: match by term: Acne inversa, familial, 2
OMIM ClinVar
PMID:20929727 PMID:21412258 PMID:25741868 PMID:27900998 PMID:28287404 PMID:28492532 PMID:28601418 More...
NCBI chrNW_004955468:2,805,153...2,806,573
Ensembl chrNW_004955468:2,805,153...2,806,573
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Psen1
presenilin 1
ISO
ClinVar Annotator: match by term: Acne inversa, familial, 3
OMIM ClinVar
PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 PMID:8905716 PMID:8962160 PMID:8986743 PMID:9521423 PMID:9804121 PMID:10327206 PMID:11389157 PMID:11524469 PMID:12433263 PMID:12549925 PMID:14769392 PMID:18045903 PMID:19111578 PMID:20049724 PMID:20157243 PMID:20929727 PMID:21559374 PMID:22242180 PMID:22461631 PMID:22475797 PMID:22503161 PMID:22956200 PMID:23638752 PMID:24463146 PMID:24559647 PMID:25285942 PMID:25299611 PMID:25323700 PMID:25741868 PMID:26337232 PMID:26467025 PMID:27264813 PMID:27930341 PMID:28269784 PMID:28492532 PMID:30054184 PMID:31235249 PMID:31914229 PMID:32087291 PMID:32917274 PMID:34389718 PMID:35645353 PMID:35949106 More...
NCBI chrNW_004955523:2,128,529...2,210,737
Ensembl chrNW_004955523:2,128,529...2,210,737
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Ncstn
nicastrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chrNW_004955468:12,111,078...12,126,404
Ensembl chrNW_004955468:12,111,078...12,127,033
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Psen1
presenilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chrNW_004955523:2,128,529...2,210,737
Ensembl chrNW_004955523:2,128,529...2,210,737
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Psenen
presenilin enhancer, gamma-secretase subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chrNW_004955468:2,805,153...2,806,573
Ensembl chrNW_004955468:2,805,153...2,806,573
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Asip
agouti signaling protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32937126
NCBI chrNW_004955422:27,021,810...27,150,339
Ensembl chrNW_004955422:27,020,386...27,057,626
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Gsn
gelsolin
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:9142022
RGD:329333022
NCBI chrNW_004955419:6,682,202...6,733,361
Ensembl chrNW_004955419:6,682,058...6,733,361
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Ccl5
C-C motif chemokine ligand 5
ISO
RGD
PMID:12502811
RGD:4890015
NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143
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Ifnar1
interferon alpha and beta receptor subunit 1
exacerbates
ISO
RGD
PMID:28264883
RGD:125093738
NCBI chrNW_004955407:32,730,973...32,755,404
Ensembl chrNW_004955407:32,730,953...32,754,651
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Ifng
interferon gamma
ISO
RGD
PMID:10366565
RGD:8158034
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Il21
interleukin 21
treatment
ISO
RGD
PMID:24358128
RGD:127285365
NCBI chrNW_004955428:18,057,096...18,065,492
Ensembl chrNW_004955428:18,057,096...18,065,492
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Irf9
interferon regulatory factor 9
exacerbates
ISO
RGD
PMID:28264883
RGD:125093738
NCBI chrNW_004955409:36,233,633...36,239,916
Ensembl chrNW_004955409:36,234,077...36,239,500
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Nfe2l2
NFE2 like bZIP transcription factor 2
ameliorates
ISO
RGD
PMID:31555293
RGD:42722615
NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944
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Rnasel
ribonuclease L
severity
ISO
RGD
PMID:17157346
RGD:40902623
NCBI chrNW_004955406:21,413,950...21,424,860
Ensembl chrNW_004955406:21,411,980...21,425,052
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Stat4
signal transducer and activator of transcription 4
severity treatment
ISO
DNA:SNPs, haplotype: :multiple DNA:SNP:intron:rs7572482 (human)
RGD
PMID:22718836
RGD:8661697
NCBI chrNW_004955403:8,061,471...8,144,252
Ensembl chrNW_004955403:8,061,471...8,144,276
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Amer1
APC membrane recruitment protein 1
ISO
associated with colorectal cancer;DNA:mutation:multiple (human)
RGD
PMID:30062471
RGD:151665182
NCBI chrNW_004955475:4,451,094...4,470,750
Ensembl chrNW_004955475:4,463,023...4,466,406
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Gclc
glutamate-cysteine ligase catalytic subunit
susceptibility
ISO
associated with Cystic Fibrosis;DNA:SNP,haplotype:promoter:-129C >T,-3506A >G (human)
RGD
PMID:24593045
RGD:10401929
NCBI chrNW_004955411:2,593,523...2,617,553
Ensembl chrNW_004955411:2,593,541...2,616,539
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Il17a
interleukin 17A
susceptibility
ISO
Moraxellaceae Infections; associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human)
RGD
PMID:20437253
RGD:4889139
NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
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Il1b
interleukin 1 beta
ISO
protein:increased expression:lung (mouse)
RGD
PMID:20308302
RGD:4142825
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Slc6a4
solute carrier family 6 member 4
ISO
protein:decreased expression:colon (mouse)
RGD
PMID:16548890
RGD:38676481
NCBI chrNW_004955481:3,088,440...3,122,421
Ensembl chrNW_004955481:3,088,416...3,125,711
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Icos
inducible T cell costimulator
ISO
RGD
PMID:12421962
RGD:1624276
NCBI chrNW_004955457:10,934,390...10,952,318
Ensembl chrNW_004955457:10,934,341...10,952,404
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Tlr2
toll like receptor 2
ISO
RGD
PMID:18354210
RGD:7240560
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Irak3
interleukin 1 receptor associated kinase 3
severity
ISO
RGD
PMID:25585690
RGD:11527046
NCBI chrNW_004955458:12,839,995...12,880,285
Ensembl chrNW_004955458:12,846,237...12,879,316
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Ptpn11
protein tyrosine phosphatase non-receptor type 11
ISO
mRNA, protein:increased expression:macrophage, lung:
RGD
PMID:27330052
RGD:39131287
NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
mRNA,protein:increased expression:lung (mouse)
RGD
PMID:29421524
RGD:39128228
NCBI chrNW_004955418:1,091,022...1,097,064
Ensembl chrNW_004955418:1,083,613...1,100,448
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Abcb1
ATP binding cassette subfamily B member 1
sexual_dimorphism no_association
ISO
associated with peptic ulcer disease;DNA:SNP: :3435C>T(human) DNA:haplotype: :3435T> C,2677T>G ,1236C>T (human)
RGD
PMID:22001987 PMID:27611887
RGD:39456093 RGD:39456122
NCBI chrNW_004955432:4,911,774...5,085,349
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Acvr1b
activin A receptor type 1B
disease_progression
ISO
associated with stomach cancer;mRNA:increased expression:stomach:
RGD
PMID:32066878
RGD:151665490
NCBI chrNW_004955547:2,311,573...2,366,106
Ensembl chrNW_004955547:2,323,771...2,367,263
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Atm
ATM serine/threonine kinase
ISO
associated with stomach cancer;mRNA:increased expression:stomach (human) associated with gastritis;mRNA:increased expression:mucosa of stomach (human)
RGD
PMID:25069978 PMID:29128564
RGD:126790563 RGD:126790566
NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
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Birc3
baculoviral IAP repeat containing 3
treatment
ISO
associated with stomach cancer associated with MALT lymphoma;DNA:gene fusion: (human)
RGD
PMID:11398794 PMID:27282269
RGD:153297818 RGD:153305954
NCBI chrNW_004955412:5,624,865...5,643,520
Ensembl chrNW_004955412:5,628,973...5,643,410
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Ccnd2
cyclin D2
treatment
ISO
associated with Gastrointestinal Neoplasms or gastritis mRNA:increased expression:stomach:
RGD
PMID:11552926 PMID:12133540
RGD:151665103 RGD:151665119
NCBI chrNW_004955413:2,083,351...2,108,450
Ensembl chrNW_004955413:2,083,351...2,103,430
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19184424
NCBI chrNW_004955484:7,782,409...7,861,082
Ensembl chrNW_004955484:7,782,772...7,860,967
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Cdkn1b
cyclin dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15138205
NCBI chrNW_004955413:9,615,542...9,620,542
Ensembl chrNW_004955413:9,615,542...9,620,542
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Cxcl8
C-X-C motif chemokine ligand 8
disease_progression
ISO
associated with gastritis;mRNA:increased expression:stomach (mouse, Helicobacter felis) mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:17242461 PMID:29085807
RGD:38549339 RGD:38549349
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Cysltr1
cysteinyl leukotriene receptor 1
treatment
ISO
RGD
PMID:18571838
RGD:40903061
NCBI chrNW_004955557:1,667,518...1,702,272
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Duox2
dual oxidase 2
disease_progression
ISO
mRNA,protein:decreased expression:mucosa of stomach (human)
RGD
PMID:27048452
RGD:40924640
NCBI chrNW_004955409:8,270,657...8,288,201
Ensembl chrNW_004955409:8,271,164...8,287,096
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Egf
epidermal growth factor
treatment
ISO
associated with gastritis;
RGD
PMID:25051417
RGD:38599160
NCBI chrNW_004955496:325,954...401,430
Ensembl chrNW_004955496:328,075...401,569
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Egfr
epidermal growth factor receptor
treatment
ISO
associated with gastritis;
RGD
PMID:25051417 PMID:28473630
RGD:38599160 RGD:38599214
NCBI chrNW_004955456:321,222...456,431
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Erbb2
erb-b2 receptor tyrosine kinase 2
treatment
ISO
associated with gastritis;
RGD
PMID:25051417
RGD:38599160
NCBI chrNW_004955451:14,442,816...14,456,009
Ensembl chrNW_004955451:14,442,816...14,459,379
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F2r
coagulation factor II thrombin receptor
ISO
RGD
PMID:24866378
RGD:40924630
NCBI chrNW_004955425:24,144,905...24,164,498
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Gab1
GRB2 associated binding protein 1
susceptibility
ISO
DNA:SNP:intron:
RGD
PMID:17211494
RGD:39128202
NCBI chrNW_004955471:61,580...191,175
Ensembl chrNW_004955471:61,120...191,175
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Hamp
hepcidin antimicrobial peptide
treatment
ISO
RGD
PMID:21757452
RGD:11041721
NCBI chrNW_004955468:4,576,080...4,577,591
Ensembl chrNW_004955468:4,575,510...4,577,649
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Hmox1
heme oxygenase 1
ISO
RGD
PMID:16100019
RGD:1598398
NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
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Ifng
interferon gamma
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Ifngr1
interferon gamma receptor 1
ISO
ClinVar Annotator: match by term: Helicobacter pylori infection, susceptibility to
ClinVar OMIM
PMID:10192386 PMID:11583830 PMID:12516030 PMID:16690980 PMID:18171304 PMID:19488747 PMID:20015550 PMID:25741868 PMID:28492532 PMID:28902581 More...
NCBI chrNW_004955436:22,183,318...22,199,013
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Il1b
interleukin 1 beta
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Il21
interleukin 21
ISO
mRNA, protein:increased expression:mucosa of stomach (human)
RGD
PMID:17442980 PMID:31383743
RGD:127285542 RGD:127285544
NCBI chrNW_004955428:18,057,096...18,065,492
Ensembl chrNW_004955428:18,057,096...18,065,492
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Il33
interleukin 33
severity
ISO
associated with Helicobacter Infections;DNA:SNP: : rs1929992(human) mRNA:increased expression:stomach
RGD
PMID:31320834 PMID:31491552
RGD:39938849 RGD:39939030
NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948
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Il6
interleukin 6
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chrNW_004955410:25,079,835...25,084,390
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LOC102012042
cytochrome b-245 heavy chain
disease_progression
ISO
mRNA,protein:increased expression:mucosa of stomach (human)
RGD
PMID:27048452
RGD:40924640
NCBI chrNW_004955587:781,533...818,149
Ensembl chrNW_004955587:781,388...819,912
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Ltb4r
leukotriene B4 receptor
treatment
ISO
RGD
PMID:18571838
RGD:40903061
NCBI chrNW_004955409:35,984,757...35,991,492
Ensembl chrNW_004955409:35,984,933...35,985,976
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Mapk8
mitogen-activated protein kinase 8
ISO
protein:increased expression:pyloric antrum (human)
RGD
PMID:17643099
RGD:150340691
NCBI chrNW_004955556:1,593,552...1,705,543
Ensembl chrNW_004955556:1,593,494...1,665,784
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human)
RGD
PMID:20957490 PMID:23183616
RGD:38501056 RGD:38501057
NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
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Muc6
mucin 6, oligomeric mucus/gel-forming
ISO
protein:increased expression:stomach epithelium
RGD
PMID:15280409
RGD:7364760
NCBI chrNW_004955476:11,165,423...11,184,674
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Myd88
MYD88 innate immune signal transduction adaptor
ISO
RGD
PMID:28201999
RGD:150519916
NCBI chrNW_004955427:25,553,589...25,557,654
Ensembl chrNW_004955427:25,553,589...25,559,138
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Pdcd1
programmed cell death 1
severity
ISO
RGD
PMID:21562113
RGD:40818417
NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
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Prkaa1
protein kinase AMP-activated catalytic subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chrNW_004955426:25,079,718...25,102,090
Ensembl chrNW_004955426:25,079,718...25,102,090
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Psca
prostate stem cell antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chrNW_004955454:1,425,255...1,429,786
Ensembl chrNW_004955454:1,425,255...1,429,786
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Pten
phosphatase and tensin homolog
ISO
associated with gastritis;protein:increased phosphorylation:stomach (human)
RGD
PMID:26376616
RGD:127285599
NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
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Ptpn11
protein tyrosine phosphatase non-receptor type 11
susceptibility
ISO
DNA:SNP:intron: rs2301756(human)
RGD
PMID:19589142
RGD:39128247
NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
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Ptprz1
protein tyrosine phosphatase receptor type Z1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17030583
NCBI chrNW_004955479:3,611,658...3,734,225
Ensembl chrNW_004955479:3,624,993...3,733,183
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Slc6a4
solute carrier family 6 member 4
ISO
DNA:repeats:promoter:
RGD
PMID:24720453
RGD:36947385
NCBI chrNW_004955481:3,088,440...3,122,421
Ensembl chrNW_004955481:3,088,416...3,125,711
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Socs3
suppressor of cytokine signaling 3
ISO
mRNA, protein:increased expression
RGD
PMID:17405912
RGD:1625683
NCBI chrNW_004955506:4,222,455...4,225,563
Ensembl chrNW_004955506:4,222,455...4,225,563
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Tff1
trefoil factor 1
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chrNW_004955407:39,363,693...39,365,724
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Tff2
trefoil factor 2
disease_progression
ISO
protein:increased expression:stomach epithelium mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:15280409 PMID:29085807
RGD:38549349 RGD:7364760
NCBI chrNW_004955407:39,379,669...39,382,367
Ensembl chrNW_004955407:39,379,526...39,382,420
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Tff3
trefoil factor 3
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chrNW_004955407:39,398,534...39,401,085
Ensembl chrNW_004955407:39,398,074...39,401,248
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Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16733738 PMID:17163184
NCBI chrNW_004955420:12,348,392...12,372,714
Ensembl chrNW_004955420:12,348,821...12,372,691
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Vip
vasoactive intestinal peptide
ISO
protein:increased expression:spinal cord, stomach
RGD
PMID:19906107
RGD:5685602
NCBI chrNW_004955439:9,021,923...9,031,783
Ensembl chrNW_004955439:9,021,904...9,031,792
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Gjb2
gap junction protein beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16172043
NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
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Il17d
interleukin 17D
sexual_dimorphism
ISO
mRNA:increased expression:apocrine gland (human)
RGD
PMID:32031713
RGD:40903066
NCBI chrNW_004955497:1,499,700...1,506,557
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Mefv
MEFV innate immunity regulator, pyrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chrNW_004955442:14,068,436...14,093,889
Ensembl chrNW_004955442:14,068,348...14,094,016
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Nlrp3
NLR family pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chrNW_004955581:597,952...616,903
Ensembl chrNW_004955581:597,667...617,410
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Nod2
nucleotide binding oligomerization domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710
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Pstpip1
proline-serine-threonine phosphatase interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chrNW_004955450:1,876,553...1,908,269
Ensembl chrNW_004955450:1,876,409...1,908,185
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Tnf
tumor necrosis factor
ISO
DNA:polymorphism,haplotype:promoter:-238G>A(human)
RGD
PMID:23106544
RGD:7777155
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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App
amyloid beta precursor protein
ISO
RGD
PMID:29632166
RGD:13782045
NCBI chrNW_004955407:25,725,259...25,973,582
Ensembl chrNW_004955407:25,722,849...25,974,268
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Bace1
beta-secretase 1
ISO
RGD
PMID:29632166
RGD:13782045
NCBI chrNW_004955412:18,596,643...18,620,089
Ensembl chrNW_004955412:18,596,643...18,620,362
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Cd68
CD68 molecule
ISO
protein:increased expression:brain (human)
RGD
PMID:15488024
RGD:40925943
NCBI chrNW_004955467:9,340,490...9,343,912
Ensembl chrNW_004955467:9,341,364...9,343,836
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Cdk5
cyclin dependent kinase 5
ISO
protein:increased tyrosine phosphorylation:hippocampus
RGD
PMID:28107387
RGD:13506927
NCBI chrNW_004955491:5,491,744...5,497,280
Ensembl chrNW_004955491:5,491,744...5,497,280
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Mfn1
mitofusin 1
ISO
associated with HIV Infections;protein:increased expression:frontal cortex, membrane (human)
RGD
PMID:26611103
RGD:12910851
NCBI chrNW_004955420:8,541,547...8,596,494
Ensembl chrNW_004955420:8,541,936...8,594,437
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Olig2
oligodendrocyte transcription factor 2
ISO
RGD
PMID:15579294
RGD:40902823
NCBI chrNW_004955407:32,432,888...32,436,209
Ensembl chrNW_004955407:32,433,849...32,434,923
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17209195
NCBI chrNW_004955447:9,327...21,212
G
Aph1b
aph-1 homolog B, gamma-secretase subunit
susceptibility
ISO
DNA:SNP:CDS:p.F217L (rs1047552) (human)
RGD
PMID:19774691
RGD:13703126
NCBI chrNW_004955450:12,000,682...12,022,183
Ensembl chrNW_004955450:12,000,424...12,022,071
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Nefl
neurofilament light chain
treatment
ISO
RGD
PMID:30105502
RGD:127284876
NCBI chrNW_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026
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Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chrNW_004955410:25,079,835...25,084,390
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:12876073
RGD:8694470
NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
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Adrb3
adrenoceptor beta 3
ISO
DNA:missense mutation:cds:p.W64R rs4994 (human)
RGD
PMID:10930169
RGD:5684895
NCBI chrNW_004955463:13,663,064...13,665,553
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Il18
interleukin 18
susceptibility
ISO
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
RGD
PMID:15353983 PMID:20331838
RGD:8655915 RGD:8655934
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
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Lmna
lamin A/C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18230615
NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
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Zmpste24
zinc metallopeptidase STE24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18230615
NCBI chrNW_004955537:82,724...134,609
Ensembl chrNW_004955537:81,920...134,609
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Abcb1
ATP binding cassette subfamily B member 1
treatment severity
ISO
mRNA:altered expression:brain, heart, kidney (rat) DNA:SNPs: :4036A>G, 1236C>T (human)
RGD
PMID:23133441 PMID:24472536 PMID:27334660
RGD:11041168 RGD:39456096 RGD:39456100
NCBI chrNW_004955432:4,911,774...5,085,349
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Abce1
ATP binding cassette subfamily E member 1
ISO
DNA:mutations:multiple (human)
RGD
PMID:19657357
RGD:11041871
NCBI chrNW_004955428:1,029,909...1,058,902
Ensembl chrNW_004955428:1,029,399...1,058,902
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Adrb2
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chrNW_004955415:5,515,157...5,517,198
Ensembl chrNW_004955415:5,515,697...5,516,980
G
Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16903978
NCBI chrNW_004955447:9,327...21,212
G
Alyref
Aly/REF export factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955506:1,278,230...1,282,064
Ensembl chrNW_004955506:1,278,471...1,281,772
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Apoa1
apolipoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12646808
NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298
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Arap3
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955415:12,098,009...12,121,722
Ensembl chrNW_004955415:12,099,651...12,121,122
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Arhgap4
Rho GTPase activating protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955580:586,986...600,299
G
Arhgdia
Rho GDP dissociation inhibitor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955506:1,297,604...1,300,072
Ensembl chrNW_004955506:1,297,956...1,300,072
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Arhgdib
Rho GDP dissociation inhibitor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955413:11,670,889...11,688,357
Ensembl chrNW_004955413:11,670,687...11,688,611
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Atm
ATM serine/threonine kinase
ISO
protein:decreased expression:T cell (human)
RGD
PMID:31781094
RGD:126790561
NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
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Bag3
BAG cochaperone 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17187345
NCBI chrNW_004955551:446,322...468,329
Ensembl chrNW_004955551:446,605...469,207
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Bax
BCL2 associated X, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
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Birc2
baculoviral IAP repeat containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chrNW_004955412:5,658,322...5,685,628
Ensembl chrNW_004955412:5,659,478...5,685,114
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Birc3
baculoviral IAP repeat containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chrNW_004955412:5,624,865...5,643,520
Ensembl chrNW_004955412:5,628,973...5,643,410
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C3
complement C3
ISO
RGD
PMID:7561187
RGD:11040775
NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
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Ccl5
C-C motif chemokine ligand 5
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, delayed disease progression with infection by | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid disease progression with infection by
ClinVar OMIM
PMID:10200305 PMID:12114533 PMID:12610055
NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143
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Ccr2
C-C motif chemokine receptor 2
susceptibility
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
ClinVar OMIM
PMID:9252328 PMID:9662369 PMID:25741868
NCBI chrNW_004955420:25,641,184...25,664,413
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Ccr3
C-C motif chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10202824
NCBI chrNW_004955420:25,702,917...25,723,269
Ensembl chrNW_004955420:25,701,407...25,723,353
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Cct3
chaperonin containing TCP1 subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955545:2,444,988...2,460,976
Ensembl chrNW_004955545:2,444,988...2,461,113
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Cct5
chaperonin containing TCP1 subunit 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955426:132,106...144,251
Ensembl chrNW_004955426:131,871...144,354
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Cct7
chaperonin containing TCP1 subunit 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955424:12,379,222...12,402,161
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Cd274
CD274 molecule
ISO
RGD
PMID:30161254 PMID:30236481
RGD:41412179 RGD:41412181
NCBI chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904
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Cd28
CD28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7492435
NCBI chrNW_004955457:11,159,769...11,253,099
Ensembl chrNW_004955457:11,162,282...11,192,991
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Cd40
CD40 molecule
ISO
protein:increased expression:plasmacytoid dendritic cell
RGD
PMID:20559432
RGD:5490533
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
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Cd40lg
CD40 ligand
ISO
RGD
PMID:21177803
RGD:5490598
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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Cd68
CD68 molecule
disease_progression
ISO
associated with opioid use;protein:increased expression:brain (human)
RGD
PMID:22797933
RGD:41404655
NCBI chrNW_004955467:9,340,490...9,343,912
Ensembl chrNW_004955467:9,341,364...9,343,836
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Cd8a
CD8 subunit alpha
treatment
ISO
RGD
PMID:29384862
RGD:124715453
NCBI chrNW_004955424:952,595...979,159
Ensembl chrNW_004955424:952,502...978,636
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Cdc42
cell division cycle 42
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955452:2,255,940...2,299,042
Ensembl chrNW_004955452:2,255,117...2,299,042
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Cdkn1a
cyclin dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chrNW_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479
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Clic1
chloride intracellular channel 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955437:269,276...275,949
Ensembl chrNW_004955437:269,276...275,949
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Cops6
COP9 signalosome subunit 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955573:770,271...775,222
Ensembl chrNW_004955573:770,271...775,489
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Cr2
complement C3d receptor 2
ISO
protein:decreased expression:B cell
RGD
PMID:8442917
RGD:127338249
NCBI chrNW_004955406:42,877,041...42,910,970
Ensembl chrNW_004955406:42,876,966...42,911,564
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
OMIM ClinVar
PMID:25741868
NCBI chrNW_004955427:24,691,206...24,705,599
Ensembl chrNW_004955427:24,701,073...24,707,230
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:plasma
RGD
PMID:27246604
RGD:14995461
NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927
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Cxcl12
C-X-C motif chemokine ligand 12
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
OMIM ClinVar
PMID:9430590 PMID:25741868
NCBI chrNW_004955546:1,929,269...1,941,690
Ensembl chrNW_004955546:1,929,269...1,941,690
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
associated with pleural tuberculosis; protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:21303360 PMID:31217522
RGD:150521549 RGD:36947878
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Cxcr1
C-X-C motif chemokine receptor 1
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
ClinVar OMIM
PMID:25741868
NCBI chrNW_004955453:15,181,027...15,196,224
Ensembl chrNW_004955453:15,194,205...15,195,272
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Ddx1
DEAD-box helicase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24183723
NCBI chrNW_004955487:9,085,950...9,117,599
Ensembl chrNW_004955487:9,085,918...9,119,979
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Ddx3x
DEAD-box helicase 3 X-linked
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24183723
NCBI chrNW_004955565:1,387,043...1,403,624
Ensembl chrNW_004955565:1,386,973...1,404,220
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Dnajc7
DnaJ heat shock protein family (Hsp40) member C7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955451:16,119,737...16,147,308
Ensembl chrNW_004955451:16,119,737...16,145,822
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Eif3b
eukaryotic translation initiation factor 3 subunit B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955460:12,918,349...12,941,150
Ensembl chrNW_004955460:12,917,389...12,941,126
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Eif4a1
eukaryotic translation initiation factor 4A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955467:9,344,629...9,351,028
Ensembl chrNW_004955467:9,345,153...9,350,955
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Eif4ebp1
eukaryotic translation initiation factor 4E binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955463:13,702,434...13,720,875
Ensembl chrNW_004955463:13,702,434...13,720,875
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Eif6
eukaryotic translation initiation factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004956210:226...6,819
Ensembl chrNW_004956210:21...9,816
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Emg1
EMG1 N1-specific pseudouridine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955413:4,563,864...4,570,809
Ensembl chrNW_004955413:4,563,864...4,570,809
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Ephb2
EPH receptor B2
ISO
mRNA:decreased expression:Anterior cingulate
RGD
PMID:23314923
RGD:127285026
NCBI chrNW_004955452:2,844,713...2,986,790
Ensembl chrNW_004955452:2,844,713...2,980,445
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Fas
Fas cell surface death receptor
ISO
RGD
PMID:10200468
RGD:11049451
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
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Fcer2
Fc fragment of IgE receptor II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11500085
NCBI chrNW_004955563:1,587,471...1,596,707
Ensembl chrNW_004955563:1,587,396...1,596,063
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Gadd45a
growth arrest and DNA damage inducible alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chrNW_004955423:23,656,516...23,658,367
Ensembl chrNW_004955423:23,656,458...23,658,367
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Gc
GC vitamin D binding protein
disease_progression
ISO
RGD
PMID:2883392
RGD:5509934
NCBI chrNW_004955447:1,361,698...1,400,633
Ensembl chrNW_004955447:1,361,566...1,402,491
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Grpel1
GrpE like 1, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955514:3,459,774...3,467,279
Ensembl chrNW_004955514:3,459,774...3,467,279
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Gtf3a
general transcription factor IIIA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955497:6,836,568...6,852,177
Ensembl chrNW_004955497:6,842,960...6,851,835
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Hdgf
heparin binding growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955545:2,819,960...2,831,197
Ensembl chrNW_004955545:2,819,960...2,830,047
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Hsp90aa1
heat shock protein 90 alpha family class A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chrNW_004955538:1,469,544...1,475,010
Ensembl chrNW_004955538:1,469,544...1,475,019
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Hsp90ab1
heat shock protein 90 alpha family class B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955437:9,872,649...9,878,459
Ensembl chrNW_004955437:9,873,908...9,878,459
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Hspa9
heat shock protein family A (Hsp70) member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955418:1,915,985...1,931,017
Ensembl chrNW_004955418:1,915,985...1,931,017
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Hspb1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chrNW_004955844:8,094...9,565
Ensembl chrNW_004955844:7,790...10,004
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Hspd1
heat shock protein family D (Hsp60) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955403:3,062,724...3,073,419
Ensembl chrNW_004955403:3,063,133...3,073,419
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Hsph1
heat shock protein family H (Hsp110) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955431:14,680,364...14,706,182
Ensembl chrNW_004955431:14,680,498...14,706,182
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Ifng
interferon gamma
ISO
OMIM
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Il10
interleukin 10
treatment
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
RGD OMIM ClinVar
PMID:10666520 PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 More...
RGD:7365087
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Il15
interleukin 15
ISO
protein:decreased expression:plasma
RGD
PMID:20028198
RGD:4892672
NCBI chrNW_004955471:1,496,352...1,583,919
Ensembl chrNW_004955471:1,497,483...1,511,469
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Il17d
interleukin 17D
severity
ISO
Protein:increased expression:blood plasma (human)
RGD
PMID:28592538
RGD:40903074
NCBI chrNW_004955497:1,499,700...1,506,557
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Il18
interleukin 18
treatment
ISO
associated with hepatitis C; protein:increased expression:serum:
RGD
PMID:27927859
RGD:14696653
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
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Il19
interleukin 19
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
ClinVar
PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 More...
NCBI chrNW_004955406:42,376,102...42,384,902
Ensembl chrNW_004955406:42,376,104...42,384,902
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Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
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Il21
interleukin 21
ISO
associated with hepatitis B;protein:decreased expression:blood serum (human)
RGD
PMID:22948268
RGD:127285366
NCBI chrNW_004955428:18,057,096...18,065,492
Ensembl chrNW_004955428:18,057,096...18,065,492
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:22530560
RGD:6892924
NCBI chrNW_004955493:5,613,704...5,646,692
Ensembl chrNW_004955493:5,613,564...5,650,583
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Il27
interleukin 27
ameliorates
ISO
associated with hepatitis C;protein:increased expression:blood plasma (human)
RGD
PMID:24816922 PMID:28338007
RGD:126790518 RGD:126790553
NCBI chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417
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Il2ra
interleukin 2 receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chrNW_004955421:22,642,004...22,694,729
Ensembl chrNW_004955421:22,641,511...22,694,913
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Il4r
interleukin 4 receptor
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955493:5,546,340...5,580,745
Ensembl chrNW_004955493:5,545,944...5,582,422
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Il6
interleukin 6
ISO
protein:increased expression:serum
RGD
PMID:1768380
RGD:10449449
NCBI chrNW_004955410:25,079,835...25,084,390
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Ilf2
interleukin enhancer binding factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955545:308,560...316,053
Ensembl chrNW_004955545:306,140...316,485
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Ipo7
importin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955414:25,131,703...25,195,892
Ensembl chrNW_004955414:25,131,821...25,195,961
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Kmt2e
lysine methyltransferase 2E (inactive)
ISO
protein:increased expression:peripheral blood, T cell, CD4+ (human)
RGD
PMID:16046540
RGD:9588555
NCBI chrNW_004955410:9,714,587...9,808,021
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Kpnb1
karyopherin subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955451:13,365,881...13,398,491
Ensembl chrNW_004955451:13,365,476...13,398,491
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Lck
LCK proto-oncogene, Src family tyrosine kinase
ISO
protein:increased tyrosine phosphorylation:T cell
RGD
PMID:16828835
RGD:1600221
NCBI chrNW_004955452:10,608,317...10,632,310
Ensembl chrNW_004955452:10,608,318...10,632,310
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Lepr
leptin receptor
ISO
protein:increased phosphorylation:peripheral blood mononuclear cell
RGD
PMID:12100031
RGD:21079471
NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407
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LOC102019320
mamu class II histocompatibility antigen, DR alpha chain
ISO
RGD
PMID:21427211
RGD:5490157
NCBI chrNW_004955437:1,109,735...1,114,742
Ensembl chrNW_004955437:1,109,713...1,114,802
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LOC102021597
alpha-1-antiproteinase S-like
susceptibility
ISO
DNA:polymorphism:cds:p.Glu264Val(human) CTD Direct Evidence: therapeutic
RGD CTD
PMID:17448989 PMID:24122823
RGD:14695057
NCBI chrNW_004955438:17,920,200...17,929,105
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Lyn
LYN proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955454:15,025,967...15,111,142
Ensembl chrNW_004955454:15,035,979...15,111,142
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Map2
microtubule associated protein 2
ISO
RGD
PMID:19966940
RGD:6483319
NCBI chrNW_004955457:5,678,826...5,816,114
Ensembl chrNW_004955457:5,678,436...5,875,024
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Maz
MYC associated zinc finger protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955493:7,149,600...7,152,449
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Mbl2
mannose binding lectin 2
severity no_association
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism:exon:
CTD RGD
PMID:16960176 PMID:19796822 PMID:26348711
RGD:12910857 RGD:12910931
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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Mdm2
MDM2 proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chrNW_004955458:15,264,028...15,287,290
Ensembl chrNW_004955458:15,263,739...15,286,808
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Mki67
marker of proliferation Ki-67
ISO
RGD
PMID:21576701
RGD:6483531
NCBI chrNW_004955477:5,847,288...5,875,970
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Mvb12a
multivesicular body subunit 12A
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS
ClinVar
NCBI chrNW_004955524:839,328...842,160
Ensembl chrNW_004955524:839,328...840,664
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Myh9
myosin heavy chain 9
ISO
protein:decreased expression:glomerulus
RGD
PMID:22313957
RGD:6903274
NCBI chrNW_004955413:22,881,759...22,972,182
Ensembl chrNW_004955413:22,881,045...22,972,450
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Nefl
neurofilament light chain
treatment
ISO
RGD
PMID:30005007
RGD:127285390
NCBI chrNW_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026
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Nefm
neurofilament medium chain
ISO
protein:increased serine/threonine phosphorylation:brain
RGD
PMID:26033855
RGD:40886309
NCBI chrNW_004955403:47,920,408...47,926,922
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Nup88
nucleoporin 88
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955467:10,749,910...10,780,423
Ensembl chrNW_004955467:10,749,910...10,780,423
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Nutf2
nuclear transport factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955484:8,832,871...8,854,151
Ensembl chrNW_004955484:8,832,871...8,854,135
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Odc1
ornithine decarboxylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chrNW_004955487:5,603,722...5,608,386
Ensembl chrNW_004955487:5,603,722...5,608,386
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Ogg1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29709520
NCBI chrNW_004955561:1,277,362...1,282,949
Ensembl chrNW_004955561:1,277,365...1,282,793
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Oprm1
opioid receptor mu 1
ISO
mRNA:increased expression:macrophage
RGD
PMID:17553897
RGD:2316609
NCBI chrNW_004955439:7,870,563...7,923,817
Ensembl chrNW_004955439:7,757,569...7,923,817
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Pdcd1
programmed cell death 1
ISO
RGD
PMID:30161254
RGD:41412179
NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
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Plaur
plasminogen activator, urokinase receptor
disease_progression
ISO
protein:increased expression:plasma
RGD
PMID:20229356 PMID:21384094
RGD:6484120 RGD:6484128
NCBI chrNW_004955555:1,378,505...1,393,395
Ensembl chrNW_004955555:1,378,793...1,393,324
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Ppia
peptidylprolyl isomerase A
disease_progression
ISO
DNA:SNPs:promotor, intron 1: 1604C>G, 2653A>C (rs8177826, rs3735481) (human)
RGD
PMID:17590083
RGD:150383341
NCBI chrNW_004955456:7,381,923...7,383,203
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Ppib
peptidylprolyl isomerase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955450:11,241,279...11,246,628
Ensembl chrNW_004955450:11,241,279...11,249,056
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Prf1
perforin 1
ISO
DNA:SNP: :rs885822 (human)
RGD
PMID:20523897 PMID:21157294
RGD:6482808 RGD:6482819
NCBI chrNW_004955437:20,700,912...20,705,076
Ensembl chrNW_004955437:20,700,718...20,706,929
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Prpf8
pre-mRNA processing factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955481:1,499,634...1,530,670
Ensembl chrNW_004955481:1,499,634...1,530,670
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Psma4
proteasome 20S subunit alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955450:925,070...932,237
Ensembl chrNW_004955450:925,542...936,653
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Psma5
proteasome 20S subunit alpha 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955435:12,823,137...12,845,631
Ensembl chrNW_004955435:12,822,707...12,846,296
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Psma6
proteasome 20S subunit alpha 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955409:25,751,578...25,787,533
Ensembl chrNW_004955409:25,750,270...25,787,533
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Psmb10
proteasome 20S subunit beta 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955484:8,777,618...8,780,393
Ensembl chrNW_004955484:8,777,621...8,780,320
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Psmb4
proteasome 20S subunit beta 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955589:976,216...978,566
Ensembl chrNW_004955589:976,321...978,617
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Psmc3
proteasome 26S subunit, ATPase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955422:837,934...843,161
Ensembl chrNW_004955422:837,573...845,341
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Psmc5
proteasome 26S subunit, ATPase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955478:7,996,902...8,002,183
Ensembl chrNW_004955478:7,996,902...8,002,183
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Psmd13
proteasome 26S subunit, non-ATPase 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955476:11,782,461...11,794,839
Ensembl chrNW_004955476:11,780,791...11,794,839
G
Psmd3
proteasome 26S subunit, non-ATPase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955451:14,666,882...14,685,573
Ensembl chrNW_004955451:14,666,882...14,685,277
G
Psmd6
proteasome 26S subunit, non-ATPase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955517:1,874,874...1,886,480
Ensembl chrNW_004955517:1,874,874...1,886,480
G
Psmd8
proteasome 26S subunit, non-ATPase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955468:1,044,940...1,052,130
Ensembl chrNW_004955468:1,043,007...1,053,043
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Psme1
proteasome activator subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955409:36,262,114...36,264,996
Ensembl chrNW_004955409:36,262,114...36,264,994
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Psme2
proteasome activator subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955409:36,252,847...36,257,021
G
Psme3
proteasome activator subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955451:16,631,379...16,637,331
Ensembl chrNW_004955451:16,631,379...16,637,331
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Psme4
proteasome activator subunit 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955441:19,586,567...19,663,335
Ensembl chrNW_004955441:19,588,597...19,663,334
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Ptch1
patched 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
mRNA, protein:increased expression:brain
RGD
PMID:21846384
RGD:5508195
NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
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Rab11b
RAB11B, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955563:1,008,267...1,017,315
Ensembl chrNW_004955563:1,008,769...1,017,315
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Rab32
RAB32, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955436:14,171,123...14,177,255
Ensembl chrNW_004955436:14,171,123...14,177,577
G
Ran
RAN, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955482:1,222,944...1,223,891
Ensembl chrNW_004955482:1,220,876...1,224,395
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Ranbp1
RAN binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955442:17,985,456...17,992,945
Ensembl chrNW_004955442:17,985,544...17,992,759
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Selp
selectin P
ISO
RGD
PMID:22156911
RGD:6218986
NCBI chrNW_004955462:7,658,371...7,692,870
Ensembl chrNW_004955462:7,652,437...7,693,994
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Sf3a3
splicing factor 3a subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955452:15,691,729...15,715,782
Ensembl chrNW_004955452:15,691,497...15,716,524
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Sfpq
splicing factor proline and glutamine rich
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955452:13,267,968...13,283,823
G
Sigmar1
sigma non-opioid intracellular receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16204638
NCBI chrNW_004955472:1,493,896...1,496,377
Ensembl chrNW_004955472:1,493,896...1,496,377
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19720090
NCBI chrNW_004955425:20,280,725...20,307,663
Ensembl chrNW_004955425:20,279,963...20,307,663
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Slc11a1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608
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Snrpd3
small nuclear ribonucleoprotein D3 polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955455:8,021,946...8,045,325
Ensembl chrNW_004955455:8,021,946...8,046,439
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Socs1
suppressor of cytokine signaling 1
ISO
mRNA:decreased expression:uterine cervix
RGD
PMID:16878360
RGD:2298904
NCBI chrNW_004955442:7,321,337...7,323,109
Ensembl chrNW_004955442:7,321,337...7,323,109
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Socs3
suppressor of cytokine signaling 3
ISO
mRNA:decreased expression:uterine cervix
RGD
PMID:16878360
RGD:2298904
NCBI chrNW_004955506:4,222,455...4,225,563
Ensembl chrNW_004955506:4,222,455...4,225,563
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Srf
serum response factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955437:9,100,546...9,109,305
Ensembl chrNW_004955437:9,098,968...9,107,057
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Srsf1
serine and arginine rich splicing factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955451:4,992,634...4,996,619
Ensembl chrNW_004955451:4,992,634...4,999,029
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Srsf9
serine and arginine rich splicing factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955455:11,175,760...11,183,597
Ensembl chrNW_004955455:11,175,760...11,183,597
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
mRNA:increased expression:multiple tissues (human)
RGD
PMID:24367701
RGD:39128218
NCBI chrNW_004955418:1,091,022...1,097,064
Ensembl chrNW_004955418:1,083,613...1,100,448
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Taf9
TATA-box binding protein associated factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955575:74,506...76,272
Ensembl chrNW_004955575:74,506...76,272
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Tlr3
toll like receptor 3
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
ClinVar OMIM
PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:24033266 PMID:25339207 PMID:25741868 PMID:26193622 PMID:28046022 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:33174085 PMID:34813006 More...
NCBI chrNW_004955403:22,977,882...23,001,392
Ensembl chrNW_004955403:22,979,120...23,001,467
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:1768380
RGD:10449449
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8811349
NCBI chrNW_004955486:1,839,642...1,910,080
G
U2af1
U2 small nuclear RNA auxiliary factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955407:38,895,741...38,909,820
Ensembl chrNW_004955407:38,895,711...38,909,820
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Vdr
vitamin D receptor
ISO
DNA:SNPs:3' UTR (human)
RGD
PMID:18712587
RGD:4889839
NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
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Yy1
YY1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chrNW_004955438:21,341,374...21,377,674
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Otulin
OTU deubiquitinase with linear linkage specificity
susceptibility
ISO
ClinVar Annotator: match by term: Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection
ClinVar OMIM
PMID:25741868 PMID:27559085 PMID:28492532 PMID:35587511
NCBI chrNW_004955426:3,953,852...3,982,532
Ensembl chrNW_004955426:3,953,933...3,982,175
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Irf1
interferon regulatory factor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 117
OMIM ClinVar
NCBI chrNW_004955408:3,882,282...3,887,965
Ensembl chrNW_004955408:3,880,155...3,887,973
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Bclaf1
BCL2 associated transcription factor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chrNW_004955439:608,849...641,005
Ensembl chrNW_004955439:608,861...641,005
G
Card11
caspase recruitment domain family member 11
ISO
ClinVar Annotator: match by term: IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE
ClinVar
PMID:25741868
NCBI chrNW_004955460:12,368,987...12,487,675
Ensembl chrNW_004955460:12,368,918...12,490,041
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Ifngr1
interferon gamma receptor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar OMIM
PMID:8960473 PMID:8960475 PMID:9142806 PMID:9389728 PMID:9497247 PMID:9806040 PMID:10192386 PMID:10811850 PMID:11583830 PMID:12516030 PMID:12712974 PMID:12743658 PMID:15589309 PMID:16195661 PMID:16690980 PMID:18171304 PMID:18593809 PMID:19488747 PMID:19880337 PMID:19880857 PMID:20015550 PMID:21266457 PMID:21448974 PMID:24033266 PMID:24199198 PMID:25216720 PMID:25592983 PMID:25741868 PMID:26060819 PMID:26173802 PMID:26343451 PMID:27356097 PMID:28492532 PMID:28902581 More...
NCBI chrNW_004955436:22,183,318...22,199,013
G
Ifngr2
interferon gamma receptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chrNW_004955407:32,846,927...32,863,155
Ensembl chrNW_004955407:32,843,846...32,862,997
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Il12rb1
interleukin 12 receptor subunit beta 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:19460324 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chrNW_004955524:3,276,932...3,299,617
G
Il20ra
interleukin 20 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chrNW_004955436:22,281,422...22,323,242
Ensembl chrNW_004955436:22,281,713...22,326,229
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Il22ra2
interleukin 22 receptor subunit alpha 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chrNW_004955436:22,208,267...22,219,667
Ensembl chrNW_004955436:22,211,175...22,220,566
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Map3k5
mitogen-activated protein kinase kinase kinase 5
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chrNW_004955439:162,499...376,919
Ensembl chrNW_004955439:163,103...377,808
G
Map7
microtubule associated protein 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chrNW_004955439:404,212...548,732
G
Mtfr2
mitochondrial fission regulator 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chrNW_004955439:643,289...662,921
Ensembl chrNW_004955439:646,432...663,033
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Pde7b
phosphodiesterase 7B
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chrNW_004955439:686,197...985,591
Ensembl chrNW_004955439:686,130...985,732
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Pex7
peroxisomal biogenesis factor 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chrNW_004955439:71,302...138,278
Ensembl chrNW_004955439:71,302...138,278
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Slc35d3
solute carrier family 35 member D3
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chrNW_004955439:60,689...63,968
Ensembl chrNW_004955439:60,615...64,052
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Ankar
ankyrin and armadillo repeat containing
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004955403:9,132,988...9,174,959
Ensembl chrNW_004955403:9,133,009...9,173,451
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Asnsd1
asparagine synthetase domain containing 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004955403:9,176,425...9,184,310
G
Col3a1
collagen type III alpha 1 chain
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887
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Col5a2
collagen type V alpha 2 chain
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004955403:9,562,401...9,703,828
Ensembl chrNW_004955403:9,562,401...9,703,828
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Gls
glutaminase
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004955403:8,195,241...8,261,402
Ensembl chrNW_004955403:8,195,255...8,261,402
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Hibch
3-hydroxyisobutyryl-CoA hydrolase
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004955403:8,752,339...8,796,693
Ensembl chrNW_004955403:8,752,309...8,792,927
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Inpp1
inositol polyphosphate-1-phosphatase
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004955403:8,713,565...8,742,725
G
LOC102003714
chromosome unknown open reading frame, human C2orf88
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004955403:8,797,416...8,847,431
G
Mfsd6
major facilitator superfamily domain containing 6
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004955403:8,624,211...8,683,815
Ensembl chrNW_004955403:8,625,959...8,683,815
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Mstn
myostatin
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004955403:8,914,505...8,921,190
Ensembl chrNW_004955403:8,914,482...8,923,465
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Nab1
NGFI-A binding protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004955403:8,456,572...8,487,749
Ensembl chrNW_004955403:8,456,572...8,487,749
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Nemp2
nuclear envelope integral membrane protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004955403:8,602,056...8,620,417
Ensembl chrNW_004955403:8,596,778...8,618,508
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Ormdl1
ORMDL sphingolipid biosynthesis regulator 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004955403:9,100,516...9,113,230
Ensembl chrNW_004955403:9,100,516...9,113,223
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Osgepl1
O-sialoglycoprotein endopeptidase like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004955403:9,118,419...9,136,840
Ensembl chrNW_004955403:9,118,406...9,138,710
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Pms1
PMS1 homolog 1, mismatch repair system component
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004955403:9,021,488...9,100,442
Ensembl chrNW_004955403:9,022,078...9,100,442
G
Slc40a1
solute carrier family 40 member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004955403:9,253,734...9,271,732
Ensembl chrNW_004955403:9,253,734...9,271,916
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Stat1
signal transducer and activator of transcription 1
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Immunodeficiency 31B | ClinVar Annotator: match by term: Mycobacterial and viral infections, susceptibility to, autosomal recessive
OMIM ClinVar
PMID:9536098 PMID:12590259 PMID:16199547 PMID:16585605 PMID:17576681 PMID:19436109 PMID:20841510 PMID:21714643 PMID:21727188 PMID:22195034 PMID:22208278 PMID:22651901 PMID:22730530 PMID:22847544 PMID:23245795 PMID:23403048 PMID:23534974 PMID:23541320 PMID:23585529 PMID:23709754 PMID:24033266 PMID:24188975 PMID:24239102 PMID:24343863 PMID:25042743 PMID:25326637 PMID:25367169 PMID:25662309 PMID:25741868 PMID:26242301 PMID:26255980 PMID:26467763 PMID:26479788 PMID:26494717 PMID:26513235 PMID:26604104 PMID:26732859 PMID:26743090 PMID:26938784 PMID:26948078 PMID:27063510 PMID:27114460 PMID:27117246 PMID:27146670 PMID:27379765 PMID:27577878 PMID:27808400 PMID:28011069 PMID:28161409 PMID:28258222 PMID:28367431 PMID:28427548 PMID:28492532 PMID:28597685 PMID:28601685 PMID:28622416 PMID:28753426 PMID:28815025 PMID:28859974 PMID:29111217 PMID:29317535 PMID:30030262 PMID:30131873 PMID:30442829 PMID:31114772 PMID:31354696 PMID:31362757 PMID:31367980 PMID:31448411 PMID:31677808 PMID:31686315 PMID:32135276 PMID:32506361 PMID:32582194 PMID:32603902 PMID:32888943 PMID:33096415 PMID:33225392 PMID:33679782 PMID:34093558 PMID:34114647 PMID:34134972 PMID:34718945 PMID:35126392 PMID:35960392 PMID:35976469 PMID:36336768 More...
NCBI chrNW_004955403:8,156,660...8,192,018
Ensembl chrNW_004955403:8,156,660...8,194,762
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Stat4
signal transducer and activator of transcription 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:22651901 PMID:28492532
NCBI chrNW_004955403:8,061,471...8,144,252
Ensembl chrNW_004955403:8,061,471...8,144,276
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Wdr75
WD repeat domain 75
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004955403:9,352,615...9,383,206
Ensembl chrNW_004955403:9,352,615...9,383,206
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Abcd1
ATP binding cassette subfamily D member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
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Arhgap4
Rho GTPase activating protein 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:586,986...600,299
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Atp2b3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471
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Atp6ap1
ATPase H+ transporting accessory protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734
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Avpr2
arginine vasopressin receptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456
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Bcap31
B cell receptor associated protein 31
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:429,223...459,168
Ensembl chrNW_004955580:428,644...459,168
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Bgn
biglycan
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:252,183...263,179
Ensembl chrNW_004955580:252,139...263,663
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Brcc3
BRCA1/BRCA2-containing complex subunit 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955594:551,407...613,772
Ensembl chrNW_004955594:554,081...613,661
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Ccnq
cyclin Q
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:336,681...349,435
Ensembl chrNW_004955580:336,681...349,435
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Clic2
chloride intracellular channel 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955594:374,332...393,802
Ensembl chrNW_004955594:374,208...393,389
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Cmc4
C-X9-C motif containing 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955594:618,516...624,780
Ensembl chrNW_004955594:618,516...624,780
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Dkc1
dyskerin pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510
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Dnase1l1
deoxyribonuclease 1 like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:907,056...913,604
Ensembl chrNW_004955580:907,582...914,243
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Dusp9
dual specificity phosphatase 9
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:388,277...392,269
Ensembl chrNW_004955580:388,850...391,455
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Emd
emerin
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904
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F8
coagulation factor VIII
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865
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Fam3a
FAM3 metabolism regulating signaling molecule A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:1,025,481...1,036,752
Ensembl chrNW_004955580:1,029,553...1,036,849
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Fam50a
family with sequence similarity 50 member A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:941,620...947,763
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
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Fundc2
FUN14 domain containing 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955594:627,839...656,241
Ensembl chrNW_004955594:625,701...656,400
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G6pd
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
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Gab3
GRB2 associated binding protein 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955594:882,921...955,079
Ensembl chrNW_004955594:912,108...956,037
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Gdi1
GDP dissociation inhibitor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:935,021...941,081
Ensembl chrNW_004955580:934,798...941,081
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Haus7
HAUS augmin like complex subunit 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:210,799...230,450
Ensembl chrNW_004955580:210,820...230,734
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Hcfc1
host cell factor C1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597
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Idh3g
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
OMIM ClinVar
PMID:11590134 PMID:15229184 PMID:16950813 PMID:18222329 PMID:20529958 PMID:25741868 PMID:28993958 PMID:30422821 PMID:31965418 PMID:33224153 More...
NCBI chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802
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Il9r
interleukin 9 receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955442:17,115,207...17,128,899
Ensembl chrNW_004955442:17,117,429...17,127,451
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Irak1
interleukin 1 receptor associated kinase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622
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L1cam
L1 cell adhesion molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
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Lage3
L antigen family member 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617
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LOC102021406
histone H2A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955593:911,641...911,919
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Mecp2
methyl-CpG binding protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288
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Mpp1
MAGUK p55 scaffold protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955594:831,100...846,438
Ensembl chrNW_004955594:831,098...846,866
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Mtcp1
mature T cell proliferation 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955594:614,422...620,142
Ensembl chrNW_004955594:614,422...620,142
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Naa10
N-alpha-acetyltransferase 10, NatA catalytic subunit
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608
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Pdzd4
PDZ domain containing 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:512,963...535,911
Ensembl chrNW_004955580:512,925...535,917
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Plxna3
plexin A3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:958,033...972,123
Ensembl chrNW_004955580:957,860...972,772
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Plxnb3
plexin B3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:482,602...495,628
Ensembl chrNW_004955580:484,805...495,445
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Pnck
pregnancy up-regulated nonubiquitous CaM kinase
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:401,411...406,663
Ensembl chrNW_004955580:401,297...405,065
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Rab39b
RAB39B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955594:424,642...431,009
Ensembl chrNW_004955594:424,504...431,009
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Renbp
renin binding protein
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027
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Rpl10
ribosomal protein L10
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:903,618...906,439
Ensembl chrNW_004955580:903,412...906,439
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Slc10a3
solute carrier family 10 member 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:1,002,029...1,005,673
Ensembl chrNW_004955580:1,002,029...1,005,673
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Slc6a8
solute carrier family 6 member 8
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:419,696...426,727
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Smim9
small integral membrane protein 9
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955594:803,406...816,735
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Spry3
sprouty RTK signaling antagonist 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955594:151,117...158,627
Ensembl chrNW_004955594:151,117...158,627
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Srpk3
SRSF protein kinase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709
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Ssr4
signal sequence receptor subunit 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:507,672...511,498
Ensembl chrNW_004955580:507,672...511,498
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Tafazzin
tafazzin, phospholipid-lysophospholipid transacylase
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791
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Tex28
testis expressed 28
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:781,339...791,284
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Tktl1
transketolase like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470
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Tmlhe
trimethyllysine hydroxylase, epsilon
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955594:272,668...329,997
Ensembl chrNW_004955594:272,646...331,757
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Trex2
three prime repair exonuclease 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:207,903...209,426
Ensembl chrNW_004955580:207,903...209,426
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Ubl4a
ubiquitin like 4A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955580:998,953...1,001,368
Ensembl chrNW_004955580:997,204...1,001,368
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Vamp7
vesicle associated membrane protein 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955594:20,496...72,648
Ensembl chrNW_004955594:18,727...72,654
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Vbp1
VHL binding protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004955594:450,048...477,504
Ensembl chrNW_004955594:447,750...477,796
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LOC102012042
cytochrome b-245 heavy chain
ISO
ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
OMIM ClinVar
PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:9536098 PMID:9585602 PMID:10089913 PMID:10914676 PMID:11435314 PMID:12139950 PMID:17293536 PMID:17576681 PMID:18546332 PMID:19483051 PMID:21278736 PMID:23193493 PMID:24276928 PMID:25741868 PMID:28492532 PMID:29560547 PMID:30470980 More...
NCBI chrNW_004955587:781,533...818,149
Ensembl chrNW_004955587:781,388...819,912
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Acap3
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,495,087...9,508,047
Ensembl chrNW_004955486:9,495,186...9,508,214
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Actrt2
actin related protein T2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:8,465,523...8,466,841
Ensembl chrNW_004955486:8,465,620...8,466,744
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Agrn
agrin
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,674,103...9,704,994
Ensembl chrNW_004955486:9,675,214...9,704,991
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Ankrd65
ankyrin repeat domain 65
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,383,502...9,384,519
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Arhgef16
Rho guanine nucleotide exchange factor 16
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:8,109,291...8,128,184
Ensembl chrNW_004955486:8,109,291...8,123,404
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Aurkaip1
aurora kinase A interacting protein 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,437,511...9,438,945
Ensembl chrNW_004955486:9,437,958...9,438,857
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B3galt6
beta-1,3-galactosyltransferase 6
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,553,765...9,555,675
Ensembl chrNW_004955486:9,554,435...9,555,459
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C1qtnf12
C1q and TNF related 12
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,541,466...9,545,231
Ensembl chrNW_004955486:9,541,367...9,547,097
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Ccdc27
coiled-coil domain containing 27
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:7,895,376...7,907,678
G
Ccnl2
cyclin L2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,423,491...9,432,811
Ensembl chrNW_004955486:9,423,491...9,432,811
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Cdk11b
cyclin dependent kinase 11B
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,251,242...9,270,218
G
Cep104
centrosomal protein 104
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:7,849,921...7,877,598
Ensembl chrNW_004955486:7,853,641...7,876,047
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Cfap74
cilia and flagella associated protein 74
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,056,836...9,107,572
Ensembl chrNW_004955486:9,057,030...9,107,600
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Cptp
ceramide-1-phosphate transfer protein
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,475,520...9,478,925
Ensembl chrNW_004955486:9,475,520...9,478,925
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CUNH1orf159
chromosome unknown C1orf159 homolog
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,632,940...9,659,682
Ensembl chrNW_004955486:9,638,645...9,659,682
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Dvl1
dishevelled segment polarity protein 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,464,390...9,469,984
Ensembl chrNW_004955486:9,464,313...9,469,984
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Faap20
FA core complex associated protein 20
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:8,938,352...8,944,631
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Fndc10
fibronectin type III domain containing 10
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,301,802...9,303,246
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Gabrd
gamma-aminobutyric acid type A receptor subunit delta
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,035,330...9,039,553
Ensembl chrNW_004955486:9,035,330...9,039,557
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Gnb1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,165,850...9,192,306
Ensembl chrNW_004955486:9,165,850...9,193,066
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Hes5
hes family bHLH transcription factor 5
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:8,700,212...8,701,581
Ensembl chrNW_004955486:8,700,162...8,701,748
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Ints11
integrator complex subunit 11
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,479,057...9,491,629
Ensembl chrNW_004955486:9,479,057...9,491,629
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Isg15
ISG15 ubiquitin like modifier
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
OMIM ClinVar
PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 PMID:21031596 PMID:22859821 PMID:24033266 PMID:25307056 PMID:25741868 PMID:26477546 PMID:28492532 PMID:31674007 PMID:32402279 More...
NCBI chrNW_004955486:9,706,878...9,707,876
Ensembl chrNW_004955486:9,706,703...9,707,949
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Klhl17
kelch like family member 17
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,745,162...9,750,874
Ensembl chrNW_004955486:9,745,162...9,750,874
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Lrrc47
leucine rich repeat containing 47
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:7,880,259...7,890,709
Ensembl chrNW_004955486:7,880,259...7,889,274
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Megf6
multiple EGF like domains 6
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:8,029,200...8,103,395
Ensembl chrNW_004955486:8,029,200...8,102,876
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Mib2
MIB E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,273,580...9,285,682
Ensembl chrNW_004955486:9,271,099...9,285,682
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Mmel1
membrane metalloendopeptidase like 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:8,635,727...8,662,793
Ensembl chrNW_004955486:8,638,233...8,663,053
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Mmp23b
matrix metallopeptidase 23B
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,270,588...9,272,310
Ensembl chrNW_004955486:9,270,484...9,272,420
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Morn1
MORN repeat containing 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:8,802,800...8,850,635
Ensembl chrNW_004955486:8,802,975...8,850,445
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Mrpl20
mitochondrial ribosomal protein L20
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,417,925...9,420,789
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Mxra8
matrix remodeling associated 8
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,452,707...9,456,640
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Nadk
NAD kinase
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,191,923...9,217,547
Ensembl chrNW_004955486:9,191,923...9,217,538
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Noc2l
NOC2 like nucleolar associated transcriptional repressor
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,750,969...9,763,622
Ensembl chrNW_004955486:9,751,053...9,767,104
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Pank4
pantothenate kinase 4 (inactive)
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:8,703,236...8,716,017
Ensembl chrNW_004955486:8,702,909...8,716,377
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Pex10
peroxisomal biogenesis factor 10
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:8,785,199...8,801,914
Ensembl chrNW_004955486:8,785,174...8,791,247
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Plch2
phospholipase C eta 2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:8,717,799...8,785,144
Ensembl chrNW_004955486:8,718,155...8,775,228
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Plekhn1
pleckstrin homology domain containing N1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,736,801...9,744,659
Ensembl chrNW_004955486:9,737,365...9,744,111
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Prdm16
PR/SET domain 16
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:8,139,848...8,327,788
Ensembl chrNW_004955486:8,137,531...8,327,977
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Prkcz
protein kinase C zeta
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:8,947,579...9,021,702
Ensembl chrNW_004955486:8,947,579...9,021,702
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Prxl2b
peroxiredoxin like 2B
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:8,663,708...8,666,369
Ensembl chrNW_004955486:8,663,595...8,666,469
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Pusl1
pseudouridine synthase like 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,491,613...9,494,746
Ensembl chrNW_004955486:9,491,506...9,494,520
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Rer1
retention in endoplasmic reticulum sorting receptor 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:8,791,457...8,802,691
Ensembl chrNW_004955486:8,791,457...8,802,691
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Rnf223
ring finger protein 223
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,658,706...9,665,467
Ensembl chrNW_004955486:9,662,186...9,665,467
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Samd11
sterile alpha motif domain containing 11
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,763,704...9,781,132
Ensembl chrNW_004955486:9,763,725...9,779,197
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Scnn1d
sodium channel epithelial 1 subunit delta
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,508,435...9,514,107
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Sdf4
stromal cell derived factor 4
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,555,773...9,565,310
Ensembl chrNW_004955486:9,555,364...9,567,340
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Ski
SKI proto-oncogene
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:8,857,693...8,921,821
Ensembl chrNW_004955486:8,857,693...8,921,821
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Smim1
small integral membrane protein 1 (Vel blood group)
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:7,889,510...7,895,281
Ensembl chrNW_004955486:7,889,510...7,894,567
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Ssu72
SSU72 homolog, RNA polymerase II CTD phosphatase
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,317,078...9,338,414
Ensembl chrNW_004955486:9,317,078...9,338,414
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Tas1r3
taste 1 receptor member 3
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,469,954...9,475,421
Ensembl chrNW_004955486:9,470,626...9,473,780
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Tmem240
transmembrane protein 240
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,339,489...9,344,025
Ensembl chrNW_004955486:9,339,479...9,344,025
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Tmem52
transmembrane protein 52
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,107,254...9,111,006
Ensembl chrNW_004955486:9,109,431...9,110,668
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Tmem88b
transmembrane protein 88B
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,376,707...9,379,315
Ensembl chrNW_004955486:9,376,707...9,379,315
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Tnfrsf14
TNF receptor superfamily member 14
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:8,670,182...8,684,677
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Tnfrsf18
TNF receptor superfamily member 18
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,571,527...9,573,733
Ensembl chrNW_004955486:9,571,530...9,573,733
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Tnfrsf4
TNF receptor superfamily member 4
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,565,424...9,569,836
Ensembl chrNW_004955486:9,567,220...9,569,676
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Tp73
tumor protein p73
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:7,914,608...7,961,992
Ensembl chrNW_004955486:7,914,440...7,952,982
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Tprg1l
tumor protein p63 regulated 1 like
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:8,007,678...8,013,996
Ensembl chrNW_004955486:8,007,842...8,013,910
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Ttc34
tetratricopeptide repeat domain 34
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:8,620,609...8,633,069
Ensembl chrNW_004955486:8,620,516...8,631,399
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Ttll10
tubulin tyrosine ligase like 10
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,576,174...9,589,297
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Ube2j2
ubiquitin conjugating enzyme E2 J2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,519,467...9,539,666
Ensembl chrNW_004955486:9,524,459...9,540,562
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Vwa1
von Willebrand factor A domain containing 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:9,365,920...9,369,117
Ensembl chrNW_004955486:9,366,796...9,369,115
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Wrap73
WD repeat containing, antisense to TP73
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chrNW_004955486:7,992,684...8,006,121
Ensembl chrNW_004955486:7,992,015...8,006,115
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Irak4
interleukin 1 receptor associated kinase 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 67 | ClinVar Annotator: match by term: Invasive pneumococcal disease, recurrent isolated
OMIM ClinVar
PMID:9536098 PMID:9789052 PMID:12637671 PMID:12925671 PMID:15520784 PMID:16199547 PMID:16647421 PMID:16950813 PMID:17114497 PMID:17312103 PMID:17544092 PMID:17576681 PMID:17878374 PMID:17893200 PMID:19663824 PMID:19814626 PMID:20621347 PMID:21057262 PMID:23538514 PMID:24033266 PMID:24316379 PMID:25344726 PMID:25741868 PMID:26472314 PMID:26698383 PMID:26825884 PMID:28492532 PMID:30073964 PMID:33083971 More...
NCBI chrNW_004955500:3,010,505...3,039,090
Ensembl chrNW_004955500:3,010,505...3,051,986
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Tirap
TIR domain containing adaptor protein
ISO
ClinVar Annotator: match by term: Invasive pneumococcal disease, protection against
ClinVar
PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868
NCBI chrNW_004955412:27,303,548...27,315,031
Ensembl chrNW_004955412:27,312,489...27,315,031
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Acvr2b
activin A receptor type 2B
ISO
ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
ClinVar
PMID:28492532
NCBI chrNW_004955427:25,438,652...25,467,360
Ensembl chrNW_004955427:25,438,652...25,467,360
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Exog
exo/endonuclease G
ISO
ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
ClinVar
PMID:28492532
NCBI chrNW_004955427:25,394,019...25,426,930
Ensembl chrNW_004955427:25,394,019...25,426,930
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Myd88
MYD88 innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18669862 PMID:19506249 PMID:20538326 PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:24316379 PMID:24728327 PMID:25741868 PMID:26619011 PMID:28492532 PMID:31301515 More...
NCBI chrNW_004955427:25,553,589...25,557,654
Ensembl chrNW_004955427:25,553,589...25,559,138
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Oxsr1
oxidative stress responsive kinase 1
ISO
ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
ClinVar
PMID:28492532
NCBI chrNW_004955427:25,575,655...25,696,356
Ensembl chrNW_004955427:25,575,655...25,696,356
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Scn5a
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
ClinVar
PMID:28492532
NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552
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Slc22a13
solute carrier family 22 member 13
ISO
ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
ClinVar
PMID:28492532
NCBI chrNW_004955421:5,027,568...5,040,000
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Slc22a14
solute carrier family 22 member 14
ISO
ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
ClinVar
PMID:28492532
NCBI chrNW_004955421:5,009,560...5,023,833
Ensembl chrNW_004955421:5,009,279...5,020,221
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Xylb
xylulokinase
ISO
ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
ClinVar
PMID:28492532
NCBI chrNW_004955427:25,492,505...25,528,674
Ensembl chrNW_004955427:25,492,505...25,528,740
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Ifng
interferon gamma
ISO
ClinVar Annotator: match by term: Immunodeficiency 69
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:32163377
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Sppl2a
signal peptide peptidase like 2A
ISO
ClinVar Annotator: match by term: Immunodeficiency 86
OMIM ClinVar
PMID:23472171 PMID:30127434
NCBI chrNW_004955409:3,642,113...3,670,779
Ensembl chrNW_004955409:3,645,555...3,670,551
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Tbx21
T-box transcription factor 21
ISO
ClinVar Annotator: match by term: Immunodeficiency 88
ClinVar OMIM
PMID:25741868
NCBI chrNW_004955451:13,315,237...13,317,888
Ensembl chrNW_004955451:13,315,859...13,325,937
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Tlr6
toll like receptor 6
susceptibility
ISO
DNA:SNP:cds:rs3775073(1263A>G)(p.Lys421Lys)(human)
RGD
PMID:25213166
RGD:127229900
NCBI chrNW_004955443:8,401,461...8,427,175
Ensembl chrNW_004955443:8,422,534...8,424,942
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Cxcl10
C-X-C motif chemokine ligand 10
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927
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Cxcl11
C-X-C motif chemokine ligand 11
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
NCBI chrNW_004955433:769,449...771,137
Ensembl chrNW_004955433:766,272...771,231
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Cxcl9
C-X-C motif chemokine ligand 9
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
NCBI chrNW_004955433:724,566...731,945
Ensembl chrNW_004955433:724,515...732,192
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Apoe
apolipoprotein E
severity
ISO
RGD
PMID:10998083
RGD:11039489
NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
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Il6
interleukin 6
treatment
ISO
RGD
PMID:8432613
RGD:11062093
NCBI chrNW_004955410:25,079,835...25,084,390
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Tlr9
toll like receptor 9
ISO
RGD
PMID:17785831
RGD:5130866
NCBI chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
RGD
PMID:11207292
RGD:38549344
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Il23a
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:16157683
RGD:39457940
NCBI chrNW_004955458:3,946,964...3,949,180
Ensembl chrNW_004955458:3,947,803...3,949,312
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Irak3
interleukin 1 receptor associated kinase 3
severity
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:20864681 PMID:22729155
RGD:35316077 RGD:36049798
NCBI chrNW_004955458:12,839,995...12,880,285
Ensembl chrNW_004955458:12,846,237...12,879,316
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Plac8
placenta associated 8
severity
ISO
RGD
PMID:17404296
RGD:40924563
NCBI chrNW_004955474:6,518,459...6,533,251
Ensembl chrNW_004955474:6,522,204...6,534,312
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Abcb1
ATP binding cassette subfamily B member 1
ISO
mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human)
RGD
PMID:29602771
RGD:41404732
NCBI chrNW_004955432:4,911,774...5,085,349
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Gpa33
glycoprotein A33
ISO
mRNA, protein:decreased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human)
RGD
PMID:29602771
RGD:41404732
NCBI chrNW_004955462:9,840,188...9,869,938
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Kit
KIT proto-oncogene, receptor tyrosine kinase
ISO
mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human
RGD
PMID:29602771
RGD:41404732
NCBI chrNW_004955447:16,149,014...16,226,151
Ensembl chrNW_004955447:16,148,605...16,226,734
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Ada
adenosine deaminase
ISO
protein:increased expression:serum
RGD
PMID:9255891
RGD:5128857
NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:16113250
RGD:4891897
NCBI chrNW_004955433:15,023,272...15,034,650
Ensembl chrNW_004955433:15,023,050...15,034,711
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Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11349020
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Il18
interleukin 18
ISO
RGD
PMID:11083766
RGD:4889865
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
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Mbl2
mannose binding lectin 2
susceptibility
ISO
RGD
PMID:19073229
RGD:12910934
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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Nod1
nucleotide binding oligomerization domain containing 1
ISO
RGD
PMID:20685341
RGD:5131443
NCBI chrNW_004955410:31,681,191...31,725,173
Ensembl chrNW_004955410:31,681,077...31,725,173
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Nod2
nucleotide binding oligomerization domain containing 2
ISO
RGD
PMID:20685341
RGD:5131443
NCBI chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710
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Tlr5
toll like receptor 5
susceptibility
ISO
ClinVar Annotator: match by term: Legionnaire disease, susceptibility to
ClinVar OMIM
PMID:14623910 PMID:16027372 PMID:23447684 PMID:25741868
NCBI chrNW_004955520:1,544,840...1,562,081
Ensembl chrNW_004955520:1,556,523...1,559,093
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Tlr9
toll like receptor 9
ISO
RGD
PMID:18426877
RGD:5130707
NCBI chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:18838275
RGD:5131445
NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
RGD
PMID:18838275
RGD:5131445
NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362
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C3
complement C3
severity
ISO
protein:decreased expression:serum
RGD
PMID:6342123
RGD:7411735
NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
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Cfb
complement factor B
severity
ISO
RGD
PMID:6342123
RGD:7411735
NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464
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Il27
interleukin 27
ameliorates
ISO
mRNA:decreased expression:skin of body (human)
RGD
PMID:26030183
RGD:126790539
NCBI chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:SNP:cds:161G>A (human)
RGD
PMID:20650301
RGD:8694069
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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Batf3
basic leucine zipper ATF-like transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25642632
NCBI chrNW_004955815:2,852...11,035
Ensembl chrNW_004955815:2,846...11,035
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Ccdc122
coiled-coil domain containing 122
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chrNW_004955518:1,746,832...1,776,266
Ensembl chrNW_004955518:1,746,744...1,784,928
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Ccdc88b
coiled-coil domain containing 88B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25642632
NCBI chrNW_004955422:20,738,202...20,751,016
Ensembl chrNW_004955422:20,738,645...20,750,945
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Cd8a
CD8 subunit alpha
exacerbates
ISO
mRNA:increased expression:blood (human)
RGD
PMID:31784594
RGD:124715449
NCBI chrNW_004955424:952,595...979,159
Ensembl chrNW_004955424:952,502...978,636
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Cxcl8
C-X-C motif chemokine ligand 8
severity
ISO
DNA:SNP:promoter:g.-353T>A (rs4073) (human)
RGD
PMID:30303246
RGD:40400755
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Il10
interleukin 10
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Il17a
interleukin 17A
severity
ISO
mRNA:decreased expression:epidermis (human)
RGD
PMID:22641009
RGD:8698644
NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
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Il19
interleukin 19
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chrNW_004955406:42,376,102...42,384,902
Ensembl chrNW_004955406:42,376,104...42,384,902
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Il23r
interleukin 23 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22019778
NCBI chrNW_004955423:23,841,342...23,885,191
Ensembl chrNW_004955423:23,842,475...23,884,904
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Lacc1
laccase domain containing 1
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chrNW_004955518:1,794,067...1,809,150
Ensembl chrNW_004955518:1,793,352...1,805,808
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Lrrk2
leucine rich repeat kinase 2
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:26467025 PMID:28492532
NCBI chrNW_004955505:84,324...216,923
Ensembl chrNW_004955505:81,796...216,923
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Lta
lymphotoxin alpha
susceptibility
ISO
ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to
OMIM ClinVar
PMID:15052269 PMID:17353895
NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529
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Mrc1
mannose receptor C-type 1
ISO
ClinVar Annotator: match by term: Susceptibility to leprosy and multibacillary leprosy
ClinVar
PMID:20035344
NCBI chrNW_004955429:10,139,398...10,232,541
Ensembl chrNW_004955429:10,139,355...10,232,600
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Nod2
nucleotide binding oligomerization domain containing 2
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710
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Parl
presenilin associated rhomboid like
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chrNW_004955420:23,549,125...23,581,782
Ensembl chrNW_004955420:23,548,672...23,582,137
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Pink1
PTEN induced kinase 1
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chrNW_004955452:1,171,115...1,186,338
Ensembl chrNW_004955452:1,171,205...1,185,125
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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...
NCBI chrNW_004955439:18,664,230...19,953,358
Ensembl chrNW_004955439:18,664,379...19,951,152
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Rab32
RAB32, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22019778
NCBI chrNW_004955436:14,171,123...14,177,255
Ensembl chrNW_004955436:14,171,123...14,177,577
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Ripk2
receptor interacting serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chrNW_004955417:6,669,675...6,698,142
Ensembl chrNW_004955417:6,669,675...6,702,228
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Slc11a1
solute carrier family 11 member 1
susceptibility
ISO
DNA:polymorphisms, haplotype (human) CTD Direct Evidence: marker/mechanism DNA:repeat:promoter (human)
RGD CTD
PMID:10608779 PMID:15755200 PMID:16597321
RGD:5684957 RGD:5684972
NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608
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Tlr1
toll like receptor 1
susceptibility
ISO
ClinVar Annotator: match by term: LPRS1 | ClinVar Annotator: match by term: Leprosy, susceptibility to, 5 DNA:snp:cds:p.I602S (human)
ClinVar RGD OMIM
PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 PMID:25741868 PMID:26729809 More...
RGD:7246917
NCBI chrNW_004955443:8,442,419...8,450,318
Ensembl chrNW_004955443:8,447,956...8,450,382
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Tlr2
toll like receptor 2
susceptibility
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 3
OMIM ClinVar
PMID:11476982 PMID:12646604 PMID:15726416 PMID:19111445 PMID:25741868 PMID:28492532 More...
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tlr6
toll like receptor 6
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chrNW_004955443:8,401,461...8,427,175
Ensembl chrNW_004955443:8,422,534...8,424,942
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:−308G>A (human)
RGD
PMID:20650301
RGD:8694069
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tnfsf15
TNF superfamily member 15
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chrNW_004955419:12,863,617...12,884,498
Ensembl chrNW_004955419:12,863,615...12,879,517
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25320285
NCBI chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117
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Ache
acetylcholinesterase (Cartwright blood group)
ISO
RGD
PMID:21921108
RGD:5688128
NCBI chrNW_004955573:79,606...85,799
Ensembl chrNW_004955573:80,298...85,799
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Ada
adenosine deaminase
ISO
RGD
PMID:21320715
RGD:5128858
NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
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Bche
butyrylcholinesterase
ISO
protein:increased expression:serum
RGD
PMID:21921108
RGD:5688128
NCBI chrNW_004955448:15,327,374...15,396,827
Ensembl chrNW_004955448:15,329,273...15,396,970
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F2
coagulation factor II, thrombin
severity
ISO
protein:increased expression:blood plasma (human)
RGD
PMID:18171258 PMID:20002620
RGD:40818429 RGD:40819859
NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
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Il1b
interleukin 1 beta
ISO
mRNA, protein:increased expression:kidney (mouse)
RGD
PMID:22323544
RGD:7175257
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Mbl2
mannose binding lectin 2
severity
ISO
protein:increased expression:serum
RGD
PMID:19330263
RGD:6903260
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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Tlr2
toll like receptor 2
ISO
RGD
PMID:19635914
RGD:7240557
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tlr4
toll like receptor 4
ISO
RGD
PMID:16428731 PMID:19635914
RGD:7240557 RGD:7241090
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Btk
Bruton tyrosine kinase
ameliorates
ISO
RGD
PMID:23544144
RGD:124713555
NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120
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Cd8a
CD8 subunit alpha
exacerbates disease_progression
ISO
protein:decreased expression:spleen, liver (mouse) protein:increased expression:liver (mouse)
RGD
PMID:2120126 PMID:20348006
RGD:124715456 RGD:124715458
NCBI chrNW_004955424:952,595...979,159
Ensembl chrNW_004955424:952,502...978,636
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Cebpb
CCAAT enhancer binding protein beta
severity
ISO
RGD
PMID:17911624
RGD:40903039
NCBI chrNW_004955445:8,060,432...8,061,289
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Cyld
CYLD lysine 63 deubiquitinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23825949
NCBI chrNW_004955433:8,788,867...8,845,925
Ensembl chrNW_004955433:8,788,655...8,845,925
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Il15
interleukin 15
ISO
protein:increased expression:epithelial cell, intestine
RGD
PMID:9826341
RGD:1626618
NCBI chrNW_004955471:1,496,352...1,583,919
Ensembl chrNW_004955471:1,497,483...1,511,469
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Il17d
interleukin 17D
severity
ISO
RGD
PMID:31244826
RGD:40903065
NCBI chrNW_004955497:1,499,700...1,506,557
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Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
RGD
PMID:8855299
RGD:11522760
NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:19923464 PMID:22966045
RGD:39457955 RGD:39457958
NCBI chrNW_004955458:3,946,964...3,949,180
Ensembl chrNW_004955458:3,947,803...3,949,312
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Il33
interleukin 33
treatment
ISO
RGD
PMID:25577440
RGD:40400693
NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
ISO
RGD
PMID:26311905
RGD:40890274
NCBI chrNW_004955486:3,813,923...3,837,563
Ensembl chrNW_004955486:3,813,923...3,838,119
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Ripk3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:30975711
RGD:127229912
NCBI chrNW_004955409:35,961,604...35,965,477
Ensembl chrNW_004955409:35,937,880...35,965,712
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:21098106 PMID:23378430
RGD:39128219 RGD:39128233
NCBI chrNW_004955418:1,091,022...1,097,064
Ensembl chrNW_004955418:1,083,613...1,100,448
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16751399
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16177108 PMID:21699557
NCBI chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:synovial fluid
RGD
PMID:23371320
RGD:7488895
NCBI chrNW_004955453:6,846,625...6,850,007
Ensembl chrNW_004955453:6,846,549...6,850,031
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Nod2
nucleotide binding oligomerization domain containing 2
ISO
RGD
PMID:21387014
RGD:5508754
NCBI chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710
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Plaur
plasminogen activator, urokinase receptor
ISO
mRNA:increased expression:skin
RGD
PMID:19461880
RGD:6483813
NCBI chrNW_004955555:1,378,505...1,393,395
Ensembl chrNW_004955555:1,378,793...1,393,324
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Cd40
CD40 molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
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Cd40lg
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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Cxcl8
C-X-C motif chemokine ligand 8
treatment
ISO
RGD
PMID:24239846
RGD:39939054
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Il1b
interleukin 1 beta
ISO
RGD
PMID:23134838
RGD:7193053
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Emilin2
elastin microfibril interfacer 2
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:15994876 PMID:23087183 PMID:28492532
NCBI chrNW_004955402:7,507,674...7,519,978
Ensembl chrNW_004955402:7,508,159...7,519,977
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Lpin2
lipin 2
ISO
ClinVar Annotator: match by term: Majeed syndrome
OMIM ClinVar
PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 PMID:16199547 PMID:17330256 PMID:17576681 PMID:18409191 PMID:19717560 PMID:20032092 PMID:20301735 PMID:20645851 PMID:23087183 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26386126 PMID:27860302 PMID:28492532 PMID:28600779 PMID:29387759 PMID:31598604 PMID:31727123 PMID:33314777 PMID:33670882 More...
NCBI chrNW_004955402:7,457,408...7,505,829
Ensembl chrNW_004955402:7,472,538...7,504,231
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Myom1
myomesin 1
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955402:7,293,415...7,418,226
Ensembl chrNW_004955402:7,297,502...7,417,583
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Smchd1
structural maintenance of chromosomes flexible hinge domain containing 1
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:15994876 PMID:23087183 PMID:28492532
NCBI chrNW_004955402:7,544,265...7,661,191
Ensembl chrNW_004955402:7,544,265...7,649,067
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Tgif1
TGFB induced factor homeobox 1
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955402:7,130,809...7,138,945
Ensembl chrNW_004955402:7,129,484...7,138,340
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:mucosa of middle ear,skin of ear canal:
RGD
PMID:24690988
RGD:8552995
NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
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Tlr2
toll like receptor 2
ISO
protein:increased expression:mucosa of middle ear,skin of ear canal:
RGD
PMID:24690988
RGD:8552995
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tlr4
toll like receptor 4
ISO
protein:increased expression:mucosa of middle ear,skin of ear canal:
RGD
PMID:24690988
RGD:8552995
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Irak3
interleukin 1 receptor associated kinase 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:19114913
RGD:36049801
NCBI chrNW_004955458:12,839,995...12,880,285
Ensembl chrNW_004955458:12,846,237...12,879,316
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Plaur
plasminogen activator, urokinase receptor
ISO
mRNA, protein:increased expression:blood, granulocyte, monocyte
RGD
PMID:20142364
RGD:6484129
NCBI chrNW_004955555:1,378,505...1,393,395
Ensembl chrNW_004955555:1,378,793...1,393,324
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Serpinf1
serpin family F member 1
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:23992406 PMID:25370187
RGD:36174010 RGD:36174011
NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241
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Tlr5
toll like receptor 5
susceptibility
ISO
ClinVar Annotator: match by term: Melioidosis, resistance to
ClinVar OMIM
PMID:14623910 PMID:16027372 PMID:23447684
NCBI chrNW_004955520:1,544,840...1,562,081
Ensembl chrNW_004955520:1,556,523...1,559,093
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Il4r
interleukin 4 receptor
ISO
protein:decreased expression:serum
RGD
PMID:21251883
RGD:5128510
NCBI chrNW_004955493:5,546,340...5,580,745
Ensembl chrNW_004955493:5,545,944...5,582,422
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Tnf
tumor necrosis factor
ISO
RGD
PMID:10318940
RGD:10449456
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Add1
adducin 1
ISO
DNA:missense mutation:cds:p.G460W (human)
RGD
PMID:18679149
RGD:5147999
NCBI chrNW_004955514:1,784,302...1,812,845
Ensembl chrNW_004955514:1,783,814...1,815,917
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C3
complement C3
severity
ISO
RGD
PMID:3491693
RGD:11041157
NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
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Cfb
complement factor B
severity
ISO
RGD
PMID:3491693
RGD:11041157
NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464
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Cfd
complement factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16527897
NCBI chrNW_004955495:6,955,612...6,961,317
G
Cpb2
carboxypeptidase B2
ISO
RGD
PMID:14717966
RGD:1598478
NCBI chrNW_004955518:3,740,348...3,803,540
Ensembl chrNW_004955518:3,740,348...3,803,539
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Il4
interleukin 4
susceptibility
ISO
DNA:SNP:promoter:-524C>T(human)
RGD
PMID:20016407
RGD:14696700
NCBI chrNW_004955408:4,058,052...4,065,999
G
C9
complement C9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9570574
NCBI chrNW_004955426:23,790,792...23,824,117
G
Cd46
CD46 molecule
ISO
RGD
PMID:12869763
RGD:6483466
NCBI chrNW_004955406:43,002,817...43,034,555
G
Cfp
complement factor properdin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8530058 PMID:10909851
NCBI chrNW_004955516:449,993...455,897
Ensembl chrNW_004955516:449,993...456,492
G
Marco
macrophage receptor with collagenous structure
ISO
protein:increased expression:sub-cortical, meninges, astrocyte
RGD
PMID:21299846
RGD:41412190
NCBI chrNW_004955459:10,700,645...10,739,222
Ensembl chrNW_004955459:10,698,294...10,739,131
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Mmp13
matrix metallopeptidase 13
ISO
RGD
PMID:10430840
RGD:8547971
NCBI chrNW_004955412:6,106,994...6,118,760
Ensembl chrNW_004955412:6,106,994...6,118,760
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:10430840
RGD:8547971
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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Nod2
nucleotide binding oligomerization domain containing 2
susceptibility
ISO
DNA:SNP,haplotype: :SNP8(human)
RGD
PMID:23691182
RGD:7800668
NCBI chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710
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Slc11a1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608
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Tlr2
toll like receptor 2
susceptibility
ISO
DNA:haplotype: :2477G>A(rs5743708)(human)
RGD
PMID:23691182
RGD:7800668
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tlr4
toll like receptor 4
susceptibility
ISO
DNA:SNP,haplotype: :896A>G(rs4986790)(human)
RGD
PMID:23691182
RGD:7800668
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Ggt1
gamma-glutamyltransferase 1
ISO
protein:increased activity:blood:
RGD
PMID:1680936
RGD:14747017
NCBI chrNW_004955455:8,082,578...8,099,523
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Slc11a1
solute carrier family 11 member 1
ISO
DNA:insertion/deletion:3' utr (human)
RGD
PMID:11791966
RGD:5684970
NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608
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Foxp3
forkhead box P3
ISO
mRNA:increased expression:peripheral blood:
RGD
PMID:25483347
RGD:38456003
NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
associated with pulmonary diseases; protein:increased expression:serum
RGD
PMID:19641295
RGD:5686838
NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
protein:increased expression:blood plasma, erythrocyte (human)
RGD
PMID:26300588
RGD:11250849
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Il17a
interleukin 17A
ISO
RGD
PMID:20797909
RGD:4888520
NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
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Tnf
tumor necrosis factor
ISO
associated with HIV Infections
RGD
PMID:7640175
RGD:10450731
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Cd36
CD36 molecule (CD36 blood group)
ISO
RGD
PMID:20950462
RGD:6893545
NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313
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Ifng
interferon gamma
ISO
associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung
RGD
PMID:19060451
RGD:2311490
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Ifngr1
interferon gamma receptor 1
ISO
DNA: mutation DNA: missense mutations: cds: I87T; V63G
RGD
PMID:15589309 PMID:21266457
RGD:6480268 RGD:6480429
NCBI chrNW_004955436:22,183,318...22,199,013
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Il22
interleukin 22
ISO
RGD
PMID:19864591
RGD:5147407
NCBI chrNW_004955458:14,747,339...14,755,602
Ensembl chrNW_004955458:14,747,084...14,752,553
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Ripk3
receptor interacting serine/threonine kinase 3
ameliorates
ISO
RGD
PMID:28401933
RGD:127229921
NCBI chrNW_004955409:35,961,604...35,965,477
Ensembl chrNW_004955409:35,937,880...35,965,712
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Slc11a1
solute carrier family 11 member 1
ISO
DNA:point mutation (mouse)
RGD
PMID:11821237
RGD:5684969
NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608
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Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11452125
NCBI chrNW_004955403:8,156,660...8,192,018
Ensembl chrNW_004955403:8,156,660...8,194,762
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15316035
NCBI chrNW_004955486:1,839,642...1,910,080
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:15316035 PMID:18941223
NCBI chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117
G
Casp3
caspase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20179380
NCBI chrNW_004955403:24,315,712...24,326,271
G
Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20179380
NCBI chrNW_004955484:7,782,409...7,861,082
Ensembl chrNW_004955484:7,782,772...7,860,967
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:17217365
RGD:1642046
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20179380
NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
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Ada
adenosine deaminase
ISO
protein:increased expression:serum
RGD
PMID:9255891
RGD:5128857
NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
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Atp1b2
ATPase Na+/K+ transporting subunit beta 2
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chrNW_004955467:9,261,775...9,268,743
Ensembl chrNW_004955467:9,261,775...9,268,743
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:lung, secretion (mouse)
RGD
PMID:18717637
RGD:4891914
NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143
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Clec5a
C-type lectin domain containing 5A
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chrNW_004955494:1,683,926...1,694,914
Ensembl chrNW_004955494:1,683,956...1,693,348
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Col3a1
collagen type III alpha 1 chain
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887
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Col6a1
collagen type VI alpha 1 chain
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chrNW_004955407:42,461,837...42,479,048
Ensembl chrNW_004955407:42,461,952...42,478,261
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Col6a2
collagen type VI alpha 2 chain
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chrNW_004955407:42,575,677...42,600,967
Ensembl chrNW_004955407:42,575,170...42,600,495
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Dnase1l3
deoxyribonuclease 1L3
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chrNW_004955430:7,867,172...7,892,079
Ensembl chrNW_004955430:7,867,109...7,892,079
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Fcer2
Fc fragment of IgE receptor II
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chrNW_004955563:1,587,471...1,596,707
Ensembl chrNW_004955563:1,587,396...1,596,063
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Flt1
fms related receptor tyrosine kinase 1
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chrNW_004955497:7,653,309...7,831,737
Ensembl chrNW_004955497:7,653,248...7,831,472
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Galc
galactosylceramidase
ISO
associated with Guillain-Barre syndrome; protein:increased expression:Cerebrospinal fluid, serum (human) protein:increased expression:serum (mouse) protein:increased expression:serum (human) associated with Guillain-Barre syndrome; protein:increased expression:serum (human)
RGD
PMID:12225900 PMID:27490360 PMID:29301655 PMID:30396892
RGD:38599168 RGD:38599169 RGD:38599171 RGD:38599172
NCBI chrNW_004955438:10,667,807...10,704,386
Ensembl chrNW_004955438:10,667,807...10,704,384
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Hdc
histidine decarboxylase
ISO
RGD
PMID:17158962
RGD:5143920
NCBI chrNW_004955409:4,051,574...4,072,641
Ensembl chrNW_004955409:4,051,271...4,072,642
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Htra3
HtrA serine peptidase 3
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chrNW_004955514:2,716,448...2,740,590
Ensembl chrNW_004955514:2,717,290...2,737,288
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Ifng
interferon gamma
ISO
mRNA:increased expression:lung:
RGD
PMID:7935058
RGD:10755754
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
G
Il13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:20416219
RGD:4145765
NCBI chrNW_004955408:4,046,406...4,049,795
G
Il22ra2
interleukin 22 receptor subunit alpha 2
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chrNW_004955436:22,208,267...22,219,667
Ensembl chrNW_004955436:22,211,175...22,220,566
G
Inhba
inhibin subunit beta A
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chrNW_004955460:2,054,879...2,066,628
Ensembl chrNW_004955460:2,046,588...2,066,609
G
Ms4a1
membrane spanning 4-domains A1
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chrNW_004955511:5,252,934...5,263,961
Ensembl chrNW_004955511:5,258,341...5,267,113
G
Pld4
phospholipase D family member 4
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chrNW_004955538:3,296,581...3,303,187
Ensembl chrNW_004955538:3,295,937...3,303,802
G
Spib
Spi-B transcription factor
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chrNW_004955559:705,809...711,407
Ensembl chrNW_004955559:705,809...711,407
G
Tcf7
transcription factor 7
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chrNW_004955408:5,362,423...5,388,684
Ensembl chrNW_004955408:5,362,084...5,388,527
G
Tcl1a
TCL1 family AKT coactivator A
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chrNW_004955438:16,934,650...16,952,926
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:20416219
RGD:4145765
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tnfrsf13c
TNF receptor superfamily member 13C
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chrNW_004955413:27,341,977...27,344,009
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C8a
complement C8 alpha chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9759902
NCBI chrNW_004955464:2,806,859...2,874,444
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C8b
complement C8 beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8098723
NCBI chrNW_004955464:2,754,655...2,796,423
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Cd40
CD40 molecule
ISO
RGD
PMID:19202131
RGD:5132273
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
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Cfd
complement factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11457876
NCBI chrNW_004955495:6,955,612...6,961,317
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Cxcl8
C-X-C motif chemokine ligand 8
treatment
ISO
RGD
PMID:27650493
RGD:39939071
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Nefl
neurofilament light chain
disease_progression
ISO
protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chrNW_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026
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Trem2
triggering receptor expressed on myeloid cells 2
disease_progression
ISO
protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chrNW_004955437:7,780,886...7,785,597
Ensembl chrNW_004955437:7,780,679...7,785,697
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Cftr
CF transmembrane conductance regulator
susceptibility
ISO
DNA:mutations: : DNA:SNP:cds:rs113857788(p.Q1352H)(human)
RGD
PMID:18703788 PMID:19858235 PMID:23514810
RGD:36049751 RGD:4140395 RGD:4140430
NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382
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Ifngr1
interferon gamma receptor 1
susceptibility
ISO
DNA:nonsense mutation ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
RGD ClinVar
PMID:8960473 PMID:9389728 PMID:9536098 PMID:9806040 PMID:10192386 PMID:10480427 PMID:10811850 PMID:11583830 PMID:12516030 PMID:12712974 PMID:12743658 PMID:15589309 PMID:16195661 PMID:16199547 PMID:16690980 PMID:17251453 PMID:17513528 PMID:17576681 PMID:18171304 PMID:18593809 PMID:19488747 PMID:19880337 PMID:20015550 PMID:21266457 PMID:21448974 PMID:24033266 PMID:24199198 PMID:24220318 PMID:25216720 PMID:25741868 PMID:26060819 PMID:26173802 PMID:26343451 PMID:26642243 PMID:27356097 PMID:27868075 PMID:28492532 PMID:28744922 PMID:28902581 PMID:29249112 PMID:29572183 More...
RGD:1624283
NCBI chrNW_004955436:22,183,318...22,199,013
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Il12b
interleukin 12B
susceptibility
ISO
disseminated BCG and Salmonella enteritidis infection, OMIM:209950 DNA:deletion:intron,exon:homozygous 4.4kb deletion encompassing exons 4 and 5 and associated introns ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive
RGD ClinVar
PMID:9854038
RGD:1600042
NCBI chrNW_004955408:13,302,506...13,316,300
Ensembl chrNW_004955408:13,304,219...13,312,620
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Il18
interleukin 18
ISO
RGD
PMID:21045270
RGD:4889546
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
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Il1r1
interleukin 1 receptor type 1
ISO
RGD
PMID:16797208
RGD:5037237
NCBI chrNW_004955470:7,685,498...7,703,374
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Il20ra
interleukin 20 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chrNW_004955436:22,281,422...22,323,242
Ensembl chrNW_004955436:22,281,713...22,326,229
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Il22ra2
interleukin 22 receptor subunit alpha 2
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chrNW_004955436:22,208,267...22,219,667
Ensembl chrNW_004955436:22,211,175...22,220,566
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Olig3
oligodendrocyte transcription factor 3
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chrNW_004955436:21,929,086...21,929,904
Ensembl chrNW_004955436:21,929,086...21,929,904
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Pex7
peroxisomal biogenesis factor 7
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chrNW_004955439:71,302...138,278
Ensembl chrNW_004955439:71,302...138,278
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Slc35d3
solute carrier family 35 member D3
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chrNW_004955439:60,689...63,968
Ensembl chrNW_004955439:60,615...64,052
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Stat1
signal transducer and activator of transcription 1
susceptibility
ISO
DNA:transition: ; 2116T>C ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Dominant
RGD ClinVar
PMID:11452125
RGD:1600087
NCBI chrNW_004955403:8,156,660...8,192,018
Ensembl chrNW_004955403:8,156,660...8,194,762
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Tnfaip3
TNF alpha induced protein 3
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chrNW_004955436:21,566,591...21,581,551
Ensembl chrNW_004955436:21,566,423...21,578,469
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Il10
interleukin 10
ISO
protein:increased expression:aqueous humor
RGD
PMID:22583692
RGD:7364832
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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C1r
complement C1r
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chrNW_004955413:4,652,156...4,660,897
Ensembl chrNW_004955413:4,652,308...4,660,304
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C3
complement C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
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F2
coagulation factor II, thrombin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
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Gsn
gelsolin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chrNW_004955419:6,682,202...6,733,361
Ensembl chrNW_004955419:6,682,058...6,733,361
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LOC102027549
serotransferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chrNW_004955501:4,801,710...4,832,025
Ensembl chrNW_004955501:4,801,885...4,831,910
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Cp
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16755360
NCBI chrNW_004955448:470,063...522,909
Ensembl chrNW_004955448:473,179...523,100
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Ggt1
gamma-glutamyltransferase 1
ISO
protein:increased activity:blood:
RGD
PMID:1680936
RGD:14747017
NCBI chrNW_004955455:8,082,578...8,099,523
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Il4
interleukin 4
treatment
ISO
RGD
PMID:24589604
RGD:10402794
NCBI chrNW_004955408:4,058,052...4,065,999
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Ptx3
pentraxin 3
ISO
protein:increased expression:plasma (human)
RGD
PMID:21679133
RGD:38508897
NCBI chrNW_004955448:8,366,795...8,373,010
Ensembl chrNW_004955448:8,366,925...8,372,411
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Il17a
interleukin 17A
ISO
mRNA,protein:increased expression:lymph node
RGD
PMID:20876291
RGD:4781452
NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
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Il1b
interleukin 1 beta
ISO
RGD
PMID:20565713
RGD:4142820
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Mavs
mitochondrial antiviral signaling protein
susceptibility
ISO
RGD
PMID:25064677
RGD:40903046
NCBI chrNW_004955415:14,691,918...14,704,782
Ensembl chrNW_004955415:14,695,438...14,703,672
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Ada
adenosine deaminase
ISO
protein:increased activity:pleural fluid: protein:increased activity:serum: protein:increased expression:serum:
RGD
PMID:1689629 PMID:1818842 PMID:18357489 PMID:21860532
RGD:152995280 RGD:152995288 RGD:152995292 RGD:152998934
NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
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Ada2
adenosine deaminase 2
treatment
ISO
RGD
PMID:8656037
RGD:152995258
NCBI chrNW_004955454:5,341,822...5,355,383
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Ccl22
C-C motif chemokine ligand 22
ISO
RGD
PMID:20337996
RGD:4891473
NCBI chrNW_004955433:15,002,001...15,007,324
Ensembl chrNW_004955433:15,001,930...15,008,032
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:19159432
RGD:4145106
NCBI chrNW_004955420:25,641,184...25,664,413
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Foxp3
forkhead box P3
disease_progression
ISO
associated with human immunodeficiency virus infectious disease;
RGD
PMID:21303360
RGD:36947878
NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
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Il1b
interleukin 1 beta
ISO
DNA:polymorphism: :3953T>C (human)
RGD
PMID:10377182
RGD:4143226
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Il1rn
interleukin 1 receptor antagonist
ISO
DNA:repeat (human)
RGD
PMID:10377182
RGD:4143226
NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
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Il27
interleukin 27
exacerbates
ISO
protein:increased expression:alveolar system (human) associated with Pleural Effusion;protein:increased expression:pleural fluid (human)
RGD
PMID:23962500 PMID:25753767 PMID:28844060 PMID:31819557
RGD:126790505 RGD:126790517 RGD:126790523 RGD:126790549
NCBI chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417
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Il33
interleukin 33
ISO
protein:increased expression:pleural fluid:
RGD
PMID:23301222
RGD:39939042
NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:pleura:
RGD
PMID:18715875
RGD:5129700
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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Tlr4
toll like receptor 4
ISO
RGD
PMID:18295348
RGD:4144193
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Tnc
tenascin C
ISO
protein:increased expression:pleura
RGD
PMID:10950882
RGD:4889594
NCBI chrNW_004955419:12,569,620...12,662,897
Ensembl chrNW_004955419:12,569,547...12,662,958
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Il17a
interleukin 17A
susceptibility
ISO
associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human)
RGD
PMID:20437253
RGD:4889139
NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
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Il27
interleukin 27
ISO
associated with influenza A;protein:increased expression:lung (mouse)
RGD
PMID:24408967
RGD:11556418
NCBI chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417
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Nfkbia
NFKB inhibitor alpha
susceptibility
ISO
DNA:SNP: :(rs1050851) (human) DNA:SNPs:enhancers: (rs3138053, rs2233406) (human)
RGD
PMID:17463416 PMID:29407193
RGD:127285388 RGD:127285391
NCBI chrNW_004955409:25,691,673...25,695,151
Ensembl chrNW_004955409:25,691,534...25,697,520
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Tirap
TIR domain containing adaptor protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17322885
NCBI chrNW_004955412:27,303,548...27,315,031
Ensembl chrNW_004955412:27,312,489...27,315,031
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Tlr9
toll like receptor 9
ISO
RGD
PMID:17004992
RGD:5130710
NCBI chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582
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Adam17
ADAM metallopeptidase domain 17
treatment
ISO
RGD
PMID:24491581
RGD:13703038
NCBI chrNW_004955487:5,180,241...5,218,298
Ensembl chrNW_004955487:5,180,252...5,218,216
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Aqp4
aquaporin 4
treatment
ISO
protein:increased expression:brain:
RGD
PMID:15695511
RGD:8698660
NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709
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Atm
ATM serine/threonine kinase
ameliorates
ISO
RGD
PMID:15529270
RGD:126781748
NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
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Camp
cathelicidin antimicrobial peptide
ISO
protein:increased expression:brain, coronal section (rat)
RGD
PMID:19879657
RGD:2316237
NCBI chrNW_004955420:24,911,920...24,914,698
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Cysltr1
cysteinyl leukotriene receptor 1
disease_progression
ISO
mRNA, protein:increased expression:brain (rat)
RGD
PMID:31933824
RGD:40903068
NCBI chrNW_004955557:1,667,518...1,702,272
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Cysltr2
cysteinyl leukotriene receptor 2
ISO
mRNA, protein:increased expression:brain (rat)
RGD
PMID:31933824
RGD:40903068
NCBI chrNW_004955431:2,203,342...2,282,635
Ensembl chrNW_004955431:2,263,698...2,282,635
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Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:24844751
RGD:39939118
NCBI chrNW_004955536:2,944,770...2,955,829
Ensembl chrNW_004955536:2,943,611...2,955,829
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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 chrNW_004955410:25,079,835...25,084,390
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Lgals3
galectin 3
ISO
mRNA, protein:increased expression:brain
RGD
PMID:17706429
RGD:9685206
NCBI chrNW_004955409:8,448,120...8,452,437
Ensembl chrNW_004955409:8,447,774...8,452,438
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Lgals9
galectin 9
ISO
RGD
PMID:17706429
RGD:9685206
NCBI chrNW_004955481:5,234,125...5,249,564
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Marco
macrophage receptor with collagenous structure
ISO
protein:increased expression:meninges, astrocyte
RGD
PMID:21299846
RGD:41412190
NCBI chrNW_004955459:10,700,645...10,739,222
Ensembl chrNW_004955459:10,698,294...10,739,131
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Mmp2
matrix metallopeptidase 2
treatment
ISO
RGD
PMID:24419461
RGD:8657111
NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
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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 chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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Nod2
nucleotide binding oligomerization domain containing 2
ISO
mRNA, protein:increased expression:brain
RGD
PMID:25443778
RGD:9831197
NCBI chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710
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Ntrk2
neurotrophic receptor tyrosine kinase 2
ISO
mRNA:increased expression:brain
RGD
PMID:21603940
RGD:5684913
NCBI chrNW_004955432:2,284,283...2,629,631
Ensembl chrNW_004955432:2,288,898...2,630,878
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:brain, nucleus
RGD
PMID:25443778
RGD:9831197
NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
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Serping1
serpin family G member 1
treatment
ISO
RGD
PMID:17538891
RGD:8661645
NCBI chrNW_004955511:2,545,337...2,557,850
Ensembl chrNW_004955511:2,545,285...2,557,982
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Tlr2
toll like receptor 2
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tlr4
toll like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Tlr9
toll like receptor 9
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582
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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 chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Alox5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:20231413
RGD:4890435
NCBI chrNW_004955546:2,495,226...2,550,909
Ensembl chrNW_004955546:2,494,819...2,550,909
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Btk
Bruton tyrosine kinase
ameliorates
ISO
RGD
PMID:30646846
RGD:124715470
NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120
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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 chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
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Ccl5
C-C motif chemokine ligand 5
susceptibility
ISO
RGD
PMID:16455992
RGD:4892130
NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143
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Cd14
CD14 molecule
ISO
RGD
PMID:17185649
RGD:4144788
NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224
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Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:10515841
RGD:4892626
NCBI chrNW_004955406:39,195,101...39,201,808
Ensembl chrNW_004955406:39,191,073...39,202,020
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Crhr1
corticotropin releasing hormone receptor 1
ISO
RGD
PMID:21774994
RGD:5147472
NCBI chrNW_004955478:10,380,185...10,390,838
Ensembl chrNW_004955478:10,379,287...10,404,825
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Crhr2
corticotropin releasing hormone receptor 2
ISO
RGD
PMID:21774994
RGD:5147472
NCBI chrNW_004955410:31,830,333...31,874,384
Ensembl chrNW_004955410:31,828,506...31,875,100
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:lung
RGD
PMID:20381636
RGD:5135285
NCBI chrNW_004955433:724,566...731,945
Ensembl chrNW_004955433:724,515...732,192
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Hmox1
heme oxygenase 1
ISO
associated with influenza;protein:increased expression:lung
RGD
PMID:17348295
RGD:4145366
NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
G
Il15
interleukin 15
ISO
protein:increased expression:alveolar macrophage, bronchial epithelial cell
RGD
PMID:17611121
RGD:5000755
NCBI chrNW_004955471:1,496,352...1,583,919
Ensembl chrNW_004955471:1,497,483...1,511,469
G
Il15ra
interleukin 15 receptor subunit alpha
ISO
RGD
PMID:17611121
RGD:5000755
NCBI chrNW_004955421:22,590,168...22,612,835
Ensembl chrNW_004955421:22,586,012...22,620,788
G
Il17a
interleukin 17A
ISO
RGD
PMID:19995896
RGD:4888531
NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
G
Il18
interleukin 18
ISO
RGD
PMID:15770015
RGD:4889960
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
G
Il6
interleukin 6
ISO
RGD
PMID:20643849
RGD:4143255
NCBI chrNW_004955410:25,079,835...25,084,390
G
Lep
leptin
ISO
RGD
PMID:17822444
RGD:5128869
NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472
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Lepr
leptin receptor
ISO
RGD
PMID:21148797
RGD:5128846
NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407
G
Mapk1
mitogen-activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chrNW_004955442:17,284,232...17,380,026
Ensembl chrNW_004955442:17,284,232...17,380,020
G
Mapk3
mitogen-activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chrNW_004955493:6,870,699...6,876,836
Ensembl chrNW_004955493:6,869,668...6,879,152
G
Masp2
MBL associated serine protease 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12904520
NCBI chrNW_004955486:2,641,730...2,655,125
G
Mbl2
mannose binding lectin 2
no_association
ISO
DNA:mutations:5' utr, exon:multiple (human) DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:12047967 PMID:18641104
RGD:4889477 RGD:4889478
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
G
Nos2
nitric oxide synthase 2
ISO
RGD
PMID:17056580
RGD:4891950
NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
G
Pten
phosphatase and tensin homolog
ameliorates
ISO
myeloid knockout
RGD
PMID:20505137
RGD:127285597
NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
G
Sftpd
surfactant protein D
severity
ISO
RGD
PMID:16255775
RGD:4143519
NCBI chrNW_004955510:213,468...226,096
Ensembl chrNW_004955510:213,438...225,896
G
Sirt1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chrNW_004955425:20,280,725...20,307,663
Ensembl chrNW_004955425:20,279,963...20,307,663
G
Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29263110
RGD:39128230
NCBI chrNW_004955418:1,091,022...1,097,064
Ensembl chrNW_004955418:1,083,613...1,100,448
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Tlr2
toll like receptor 2
ISO
RGD
PMID:19956717
RGD:4145321
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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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 chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:20385761
RGD:39938865
NCBI chrNW_004955536:2,944,770...2,955,829
Ensembl chrNW_004955536:2,943,611...2,955,829
G
Cebpb
CCAAT enhancer binding protein beta
treatment
ISO
mRNA,protein:increased expression:cornea (mouse)
RGD
PMID:23626014
RGD:40903020
NCBI chrNW_004955445:8,060,432...8,061,289
G
Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:9916118
RGD:8547701
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
G
Il10
interleukin 10
treatment
ISO
RGD
PMID:23878501
RGD:7364804
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
G
Il18
interleukin 18
ISO
RGD
PMID:12023376
RGD:8655931
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
G
Il1b
interleukin 1 beta
ISO
RGD
PMID:11895986
RGD:7401195
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
G
Il1rn
interleukin 1 receptor antagonist
treatment
ISO
mRNA:increased expression:cornea (mouse)
RGD
PMID:9423885 PMID:11895986
RGD:7401195 RGD:8549805
NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
G
Il6
interleukin 6
ISO
RGD
PMID:11349084
RGD:7829813
NCBI chrNW_004955410:25,079,835...25,084,390
G
Mmp9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:16384971
RGD:8547891
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
G
Tlr2
toll like receptor 2
ISO
mRNA,protein:increased expression:cornea:
RGD
PMID:20012880
RGD:8552969
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
G
Tlr4
toll like receptor 4
ISO
mRNA,protein:increased expression:cornea:
RGD
PMID:17065506 PMID:20012880
RGD:7794775 RGD:8552969
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
G
Tslp
thymic stromal lymphopoietin
severity
ISO
RGD
PMID:30128494
RGD:38596331
NCBI chrNW_004955418:4,041,529...4,045,534
G
Anxa2
annexin A2
severity
ISO
RGD
PMID:26371245
RGD:38676497
NCBI chrNW_004955450:14,545,586...14,574,161
Ensembl chrNW_004955450:14,512,381...14,574,696
G
Ccl17
C-C motif chemokine ligand 17
ISO
associated with Cystic Fibrosis
RGD
PMID:16387607
RGD:4145500
NCBI chrNW_004955433:15,052,616...15,054,732
Ensembl chrNW_004955433:15,053,061...15,054,572
G
Ccl5
C-C motif chemokine ligand 5
treatment
ISO
protein:increased expression:lung, secretion (mouse)
RGD
PMID:20720199 PMID:27175332
RGD:32733623 RGD:4891951
NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143
G
Cftr
CF transmembrane conductance regulator
ISO
RGD
PMID:11390493 PMID:15039325
RGD:36049749 RGD:36049752
NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382
G
Csf2
colony stimulating factor 2
treatment
ISO
associated with Neutropenia;
RGD
PMID:1966550
RGD:10449524
NCBI chrNW_004955408:3,452,009...3,454,255
Ensembl chrNW_004955408:3,451,965...3,454,312
G
Cxcl8
C-X-C motif chemokine ligand 8
treatment
ISO
RGD
PMID:27175332
RGD:32733623
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
G
Dctn4
dynactin subunit 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22772370
NCBI chrNW_004955415:3,850,475...3,886,953
Ensembl chrNW_004955415:3,850,086...3,886,953
G
Fgf2
fibroblast growth factor 2
treatment
ISO
human protein in mouse model
RGD
PMID:26617350
RGD:126928152
NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773
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Fgf7
fibroblast growth factor 7
treatment
ISO
human protein in rat model
RGD
PMID:11076810
RGD:126928130
NCBI chrNW_004955409:4,633,542...4,686,768
Ensembl chrNW_004955409:4,632,858...4,686,860
G
Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
associated with Cystic Fibrosis
RGD
PMID:18976645
RGD:4142522
NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428
G
Il13
interleukin 13
ISO
associated with Cystic Fibrosis
RGD
PMID:16387607
RGD:4145500
NCBI chrNW_004955408:4,046,406...4,049,795
G
Il1b
interleukin 1 beta
treatment
ISO
associated with Agranulocytosis
RGD
PMID:7486912 PMID:7923933
RGD:10450534 RGD:7401204
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
G
Il1rn
interleukin 1 receptor antagonist
ISO
associated with Cystic Fibrosis
RGD
PMID:8327288
RGD:4143202
NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
G
Il24
interleukin 24
ISO
associated with Cystic Fibrosis
RGD
PMID:19399182
RGD:5147421
NCBI chrNW_004955406:42,431,845...42,437,392
Ensembl chrNW_004955406:42,432,795...42,437,016
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Il27
interleukin 27
ameliorates
ISO
associated with Sepsis
RGD
PMID:25074706
RGD:126790541
NCBI chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417
G
Il33
interleukin 33
ISO
mRNA:increased expression:lung:
RGD
PMID:28401938
RGD:40400699
NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948
G
Il6
interleukin 6
treatment
ISO
RGD
PMID:27175332
RGD:32733623
NCBI chrNW_004955410:25,079,835...25,084,390
G
Irak3
interleukin 1 receptor associated kinase 3
severity
ISO
associated with Sepsis
RGD
PMID:16917541
RGD:36049803
NCBI chrNW_004955458:12,839,995...12,880,285
Ensembl chrNW_004955458:12,846,237...12,879,316
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LOC102004444
beta-defensin 1-like
susceptibility no_association
ISO
associated with Cystic Fibrosis;DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human) associated with Cystic Fibrosis;DNA:SNPs:5' utr, intron, 3' utr:multiple (human)
RGD
PMID:15820309 PMID:17960157 PMID:20193032
RGD:4892248 RGD:4892250 RGD:4892256
NCBI chrNW_004955403:53,643,328...53,644,361
Ensembl chrNW_004955403:53,643,300...53,644,505
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Mapk8
mitogen-activated protein kinase 8
ameliorates
ISO
associated with Pneumonia, Ventilator-Associated
RGD
PMID:27506464
RGD:150340682
NCBI chrNW_004955556:1,593,552...1,705,543
Ensembl chrNW_004955556:1,593,494...1,665,784
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Mbl2
mannose binding lectin 2
onset
ISO
associated with Cystic Fibrosis; DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:20068595
RGD:4889579
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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Pten
phosphatase and tensin homolog
exacerbates
ISO
RGD
PMID:29246444
RGD:127285608
NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
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Ptx3
pentraxin 3
susceptibility
ISO
associated with cystic fibrosis; DNA:SNPs, haplotypes:cds:rs35948036,rs2305619,rs1840680,rs3816527(human)
RGD
PMID:20927127
RGD:35673347
NCBI chrNW_004955448:8,366,795...8,373,010
Ensembl chrNW_004955448:8,366,925...8,372,411
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Sftpb
surfactant protein B
ameliorates
ISO
RGD
PMID:20007532
RGD:151667448
NCBI chrNW_004955424:1,849,313...1,858,087
Ensembl chrNW_004955424:1,849,314...1,858,087
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Tlr5
toll like receptor 5
ISO
RGD
PMID:20566829
RGD:5129679
NCBI chrNW_004955520:1,544,840...1,562,081
Ensembl chrNW_004955520:1,556,523...1,559,093
G
Tnf
tumor necrosis factor
treatment
ISO
associated with Agranulocytosis
RGD
PMID:7923933 PMID:8168971 PMID:27175332
RGD:10450534 RGD:10450561 RGD:32733623
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:20448050
RGD:5131427
NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
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Abcb1
ATP binding cassette subfamily B member 1
treatment
ISO
DNA:SNP: :2677G>A (human)
RGD
PMID:26067842
RGD:11098541
NCBI chrNW_004955432:4,911,774...5,085,349
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Ada
adenosine deaminase
ISO
protein:increased expression:plasma, respiratory system fluid/secretion protein:increased activity:blood, pulmonary alveolar duct protein:increased activity:sputum:
RGD
PMID:2212911 PMID:12194640 PMID:19460251
RGD:152995271 RGD:152995390 RGD:5128854
NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
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Ada2
adenosine deaminase 2
ISO
protein:increased activity:sputum:
RGD
PMID:19460251
RGD:152995271
NCBI chrNW_004955454:5,341,822...5,355,383
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:plasma
RGD
PMID:22022605
RGD:5686405
NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
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Akt1
AKT serine/threonine kinase 1
susceptibility
ISO
DNA:SNP,haplotype:intron: IVS3+18 C/C (human)
RGD
PMID:20141546
RGD:38676498
NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904
G
Alox5
arachidonate 5-lipoxygenase
susceptibility
ISO
DNA:polymorphism, repeat:promoter, exon:g.760G>A (human)
RGD
PMID:18174194
RGD:4890411
NCBI chrNW_004955546:2,495,226...2,550,909
Ensembl chrNW_004955546:2,494,819...2,550,909
G
Asap1
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25774636
NCBI chrNW_004955461:4,813,228...5,083,548
Ensembl chrNW_004955461:4,811,069...5,133,257
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Atf3
activating transcription factor 3
ISO
mRNA,protein:increased expression:lung
RGD
PMID:20856677
RGD:34888225
NCBI chrNW_004955406:4,875,672...4,889,173
Ensembl chrNW_004955406:4,875,613...4,889,242
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C3
complement C3
ISO
RGD
PMID:19472039
RGD:5129500
NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
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Ccl1
C-C motif chemokine ligand 1
susceptibility
ISO
DNA:SNP: :multiple (human) mRNA:increased expression:lung, dendritic cell
RGD
PMID:18703681 PMID:19057661
RGD:4891408 RGD:4891409
NCBI chrNW_004955481:9,085,943...9,089,147
G
Ccl19
C-C motif chemokine ligand 19
ISO
mRNA:increased expression:lung
RGD
PMID:19933855
RGD:5130906
NCBI chrNW_004955472:1,444,598...1,446,488
Ensembl chrNW_004955472:1,444,316...1,446,490
G
Ccl5
C-C motif chemokine ligand 5
susceptibility
ISO
DNA:snps:5' utr:g.-403G>A rs2280788, g.-28C>G rs2107538 (human) mRNA:increased expression:lung (human)
RGD
PMID:15128813 PMID:19335954
RGD:4891879 RGD:4892112
NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143
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Ccr2
C-C motif chemokine receptor 2
disease_progression
ISO
RGD
PMID:11438742
RGD:734715
NCBI chrNW_004955420:25,641,184...25,664,413
G
Cd14
CD14 molecule
susceptibility
ISO
protein:increased expression:monocyte, serum DNA:polymorphism:promoter:c. -159C>T (human)
RGD
PMID:18008256
RGD:4144205
NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224
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Cd274
CD274 molecule
ISO
protein:increased expression:Tcell, B cell, monocyte
RGD
PMID:23661793
RGD:40818418
NCBI chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904
G
Cd36
CD36 molecule (CD36 blood group)
susceptibility
ISO
DNA:SNPs: :rs1194182, rs10499859(human)
RGD
PMID:28693442
RGD:41412192
NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313
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Cd86
CD86 molecule
ISO
protein:decreased expression:sputum, macrophage (human)
RGD
PMID:17713660
RGD:4892339
NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874
G
Cxcl10
C-X-C motif chemokine ligand 10
treatment
ISO
RGD
PMID:29843631
RGD:27095956
NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927
G
Cxcl8
C-X-C motif chemokine ligand 8
exacerbates
ISO
protein:increased expression:serum (human) RNA:increased expression:blood plasma (human)
RGD
PMID:16001981 PMID:27434276
RGD:150523784 RGD:39939055
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
G
Ddit3
DNA damage inducible transcript 3
ISO
mRNA,protein:increased expression:lung
RGD
PMID:20856677
RGD:34888225
NCBI chrNW_004955458:5,232,979...5,238,513
Ensembl chrNW_004955458:5,232,979...5,238,513
G
Egfr
epidermal growth factor receptor
disease_progression
ISO
associated with lung adenocarcinoma;
RGD
PMID:22173705 PMID:29621876
RGD:38599162 RGD:38599176
NCBI chrNW_004955456:321,222...456,431
G
Ereg
epiregulin
susceptibility
ISO
DNA:SNP:exon 4: (rs2367707) (human)
RGD
PMID:30634928
RGD:39457687
NCBI chrNW_004955474:612,440...627,606
Ensembl chrNW_004955474:612,440...627,606
G
Foxp3
forkhead box P3
susceptibility
ISO
DNA:polymorphism:promoter:-924A>G(human)
RGD
PMID:29020928
RGD:38501101
NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
G
Gbe1
1,4-alpha-glucan branching enzyme 1
ISO
DNA:SNP:intron:rs2307058 (human)
RGD
PMID:28355295
RGD:18337291
NCBI chrNW_004955407:10,692,082...10,959,236
Ensembl chrNW_004955407:10,692,303...10,963,489
G
Havcr2
hepatitis A virus cellular receptor 2
ISO
RGD
PMID:21382414
RGD:5135524
NCBI chrNW_004955408:11,289,920...11,311,216
Ensembl chrNW_004955408:11,291,937...11,311,320
G
Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:32369456
RGD:39939073
NCBI chrNW_004955536:2,944,770...2,955,829
Ensembl chrNW_004955536:2,943,611...2,955,829
G
Il13
interleukin 13
ISO
mRNA:increased expression:Leukocytes, Mononuclear
RGD
PMID:10608794
RGD:4145649
NCBI chrNW_004955408:4,046,406...4,049,795
G
Il15
interleukin 15
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11742275
RGD:4990461
NCBI chrNW_004955471:1,496,352...1,583,919
Ensembl chrNW_004955471:1,497,483...1,511,469
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Il18
interleukin 18
ISO
protein:increased expression:serum
RGD
PMID:15955140
RGD:4889836
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:9176116
RGD:4142835
NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
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Il1b
interleukin 1 beta
susceptibility severity
ISO
DNA:polymorphism: :3953T>C (human) protein:increased expression:lung protein:increased expression:bronchioalveolar lavage fluid (human)
RGD
PMID:10543265 PMID:10631206 PMID:16634865
RGD:4143179 RGD:4143180 RGD:5147843
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Il1rl1
interleukin 1 receptor like 1
ISO
RGD
PMID:28128217
RGD:39938965
NCBI chrNW_004955470:7,779,828...7,849,157
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Il1rn
interleukin 1 receptor antagonist
severity
ISO
protein:increased expression:lung, serum
RGD
PMID:10543265 PMID:10631206 PMID:14619382
RGD:4143174 RGD:4143179 RGD:4143180
NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
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Il23a
interleukin 23 subunit alpha
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:11801672 PMID:16002675 PMID:20624887 PMID:21156751
RGD:39457949 RGD:39457953 RGD:39458036 RGD:39458038
NCBI chrNW_004955458:3,946,964...3,949,180
Ensembl chrNW_004955458:3,947,803...3,949,312
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Il27
interleukin 27
exacerbates
ISO
DNA:SNPs:promoter, exon:-964A>G, 2905T>G (human) DNA:SNPs:promoter,exons:-964A>G, 2905T>G, 4730T>C (rs153109, rs17855750, rs181206) (human)
RGD
PMID:30948177 PMID:31949807
RGD:126790508 RGD:39456132
NCBI chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417
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Il27ra
interleukin 27 receptor subunit alpha
ISO
RGD
PMID:15749890
RGD:5128486
NCBI chrNW_004955415:32,749,682...32,762,532
Ensembl chrNW_004955415:32,749,094...32,761,882
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Il33
interleukin 33
ISO
RGD
PMID:28128217
RGD:39938965
NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948
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Il4
interleukin 4
severity
ISO
RGD
PMID:20832364
RGD:5128550
NCBI chrNW_004955408:4,058,052...4,065,999
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Il4r
interleukin 4 receptor
ISO
protein:decreased expression:serum
RGD
PMID:21251883
RGD:5128510
NCBI chrNW_004955493:5,546,340...5,580,745
Ensembl chrNW_004955493:5,545,944...5,582,422
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Il6
interleukin 6
ISO
RGD
PMID:20624776
RGD:4143257
NCBI chrNW_004955410:25,079,835...25,084,390
G
Il6r
interleukin 6 receptor
ISO
protein:decreased expression:T cell
RGD
PMID:20019339
RGD:5128632
NCBI chrNW_004955545:932,814...979,359
Ensembl chrNW_004955545:950,765...981,762
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Irf1
interferon regulatory factor 1
ISO
RGD
PMID:11083808
RGD:5128719
NCBI chrNW_004955408:3,882,282...3,887,965
Ensembl chrNW_004955408:3,880,155...3,887,973
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Itih4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
protein:increased expression:urine
RGD
PMID:29636444
RGD:40903003
NCBI chrNW_004955430:2,772,064...2,787,912
Ensembl chrNW_004955430:2,770,373...2,789,131
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
protein:decreased phosphorylation:macrophage, nucleus
RGD
PMID:19737230
RGD:4889999
NCBI chrNW_004955464:1,107,598...1,110,326
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LOC102004641
cytochrome b-245 light chain
no_association
ISO
DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human)
RGD
PMID:16608528
RGD:4780358
NCBI chrNW_004955541:2,570,843...2,573,822
Ensembl chrNW_004955541:2,569,727...2,574,118
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LOC102026469
HLA class II histocompatibility antigen, DP beta 1 chain
ISO
RGD
PMID:18652916
RGD:5144001
NCBI chrNW_004955437:1,655,092...1,666,552
Ensembl chrNW_004955437:1,635,538...1,669,042
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Lta
lymphotoxin alpha
susceptibility
ISO
DNA:polymorphism:intron:252G>A (human)
RGD
PMID:20180006
RGD:4143234
NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529
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Marco
macrophage receptor with collagenous structure
susceptibility
ISO
DNA:SNP: :rs12998782(human) DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human) DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human)
RGD
PMID:23617307 PMID:27853145 PMID:28693442
RGD:41412192 RGD:41412194 RGD:41412195
NCBI chrNW_004955459:10,700,645...10,739,222
Ensembl chrNW_004955459:10,698,294...10,739,131
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Mbl2
mannose binding lectin 2
ISO
DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:19199550
RGD:4889452
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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Mif
macrophage migration inhibitory factor
susceptibility
ISO
DNA:SNP: :rs755622 (human)
RGD
PMID:20439102
RGD:4891004
NCBI chrNW_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460
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Mmp7
matrix metallopeptidase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chrNW_004955412:5,780,772...5,792,485
Ensembl chrNW_004955412:5,778,502...5,792,445
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Mmp8
matrix metallopeptidase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chrNW_004955412:5,928,997...5,939,012
Ensembl chrNW_004955412:5,928,997...5,939,012
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:16982845
RGD:5130746
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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Nfkbia
NFKB inhibitor alpha
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:9379002
RGD:126908014
NCBI chrNW_004955409:25,691,673...25,695,151
Ensembl chrNW_004955409:25,691,534...25,697,520
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Nod2
nucleotide binding oligomerization domain containing 2
susceptibility
ISO
DNA:SNPs:CDs:p.P268S, R702W, A725G (human)
RGD
PMID:18419343
RGD:5131510
NCBI chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710
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Nos2
nitric oxide synthase 2
ISO
DNA:SNPs:multiple (human)
RGD
PMID:19575238
RGD:4144122
NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
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Pdcd1
programmed cell death 1
treatment
ISO
protein:increased expression:Tcell, B cell, monocyte
RGD
PMID:23661793
RGD:40818418
NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
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Pdcd1lg2
programmed cell death 1 ligand 2
ISO
protein:increased expression:Tcell, B cell, monocyte
RGD
PMID:23661793
RGD:40818418
NCBI chrNW_004955434:9,540,047...9,559,335
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Plaur
plasminogen activator, urokinase receptor
severity
ISO
RGD
PMID:18359089
RGD:6483832
NCBI chrNW_004955555:1,378,505...1,393,395
Ensembl chrNW_004955555:1,378,793...1,393,324
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Ptpn22
protein tyrosine phosphatase non-receptor type 22
ISO
DNA:SNPs:cds:788G>A, 1858C>T (human)
RGD
PMID:19563523
RGD:6484723
NCBI chrNW_004955435:17,082,762...17,139,067
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Slc11a1
solute carrier family 11 member 1
susceptibility
ISO
DNA:polymorphism:intron (human) DNA:deletion:3'UTR:
RGD
PMID:21169917 PMID:24024195
RGD:36049753 RGD:5684974
NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608
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Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
associated with HIV Infections;
RGD
PMID:21843574
RGD:6482248
NCBI chrNW_004955437:1,504,549...1,511,110
Ensembl chrNW_004955437:1,504,947...1,511,097
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Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:9062973
RGD:5147851
NCBI chrNW_004955437:1,480,217...1,499,032
Ensembl chrNW_004955437:1,477,341...1,498,575
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Tlr1
toll like receptor 1
ISO
mRNA:increased expression:blood
RGD
PMID:16493059
RGD:4889525
NCBI chrNW_004955443:8,442,419...8,450,318
Ensembl chrNW_004955443:8,447,956...8,450,382
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Tlr2
toll like receptor 2
susceptibility
ISO
DNA:polymorphism:intron (human) DNA:SNP: :rs1816702 (human) DNA:polymorphisms: :multiple (human) mRNA, protein:increased expression:blood, T cell
RGD
PMID:19552525 PMID:19723394 PMID:20113509 PMID:20298136
RGD:4145304 RGD:4145320 RGD:4145323 RGD:4145355
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tlr4
toll like receptor 4
severity susceptibility
ISO
DNA:polymorphisms:cds: p. D299F, T399I (human) protein:increased expression:monocyte DNA:SNP:intron: rs5030729 (human)
RGD
PMID:18008256 PMID:19575238 PMID:20403143
RGD:4144106 RGD:4144122 RGD:4144205
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Tlr9
toll like receptor 9
ISO
DNA:snps:multiple (human)
RGD
PMID:19771452
RGD:5130704
NCBI chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582
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Tnf
tumor necrosis factor
disease_progression susceptibility
ISO
DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human)
RGD
PMID:9176116 PMID:18212516 PMID:20650298
RGD:4142835 RGD:4143388 RGD:4143395
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Vdr
vitamin D receptor
susceptibility
ISO
DNA:SNPs (human) DNA:SNP (human) DNA:SNPs:promoter, 3' UTR (human) DNA:SNPs:5' UTR (human)
RGD
PMID:15295697 PMID:17236578 PMID:18231846 PMID:18397302 PMID:20231985
RGD:4889830 RGD:4889842 RGD:4889845 RGD:4889849 RGD:4889853
NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
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Ada
adenosine deaminase
ISO
protein:increased expression:serum
RGD
PMID:9255891
RGD:5128857
NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
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Dhcr24
24-dehydrocholesterol reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chrNW_004955464:4,533,928...4,557,893
Ensembl chrNW_004955464:4,533,928...4,558,133
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Flot1
flotillin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chrNW_004955583:717,246...729,924
Ensembl chrNW_004955583:713,560...729,924
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
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Ldlr
low density lipoprotein receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chrNW_004955495:2,114,702...2,135,584
Ensembl chrNW_004955495:2,114,434...2,138,056
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Lss
lanosterol synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chrNW_004955407:42,633,658...42,653,399
Ensembl chrNW_004955407:42,633,658...42,653,399
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Il4r
interleukin 4 receptor
ISO
protein:decreased expression:serum DNA:polymorphism:cds:p.I50V (human)
RGD
PMID:19548368 PMID:21251883
RGD:5128510 RGD:7207069
NCBI chrNW_004955493:5,546,340...5,580,745
Ensembl chrNW_004955493:5,545,944...5,582,422
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Gc
GC vitamin D binding protein
ISO
RGD
PMID:2737695
RGD:5509933
NCBI chrNW_004955447:1,361,698...1,400,633
Ensembl chrNW_004955447:1,361,566...1,402,491
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:14567831
RGD:13702910
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
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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 chrNW_004955425:4,023,001...4,039,980
Ensembl chrNW_004955425:4,026,430...4,040,747
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Bax
BCL2 associated X, apoptosis regulator
ISO
mRNA:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
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Cd36
CD36 molecule (CD36 blood group)
ISO
mRNA:decreased expression:blood, mononuclear cell
RGD
PMID:16741676
RGD:6893529
NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313
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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 chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
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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 chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887
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Fcn3
ficolin 3
ISO
ClinVar Annotator: match by term: Rheumatic heart disease
ClinVar
NCBI chrNW_004955452:6,630,548...6,635,334
Ensembl chrNW_004955452:6,630,505...6,635,235
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
RGD
PMID:26823728
RGD:13792679
NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783
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Igf1
insulin like growth factor 1
ISO
RGD
PMID:16406300
RGD:1582623
NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
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Il10
interleukin 10
no_association
ISO
RGD
PMID:16043936
RGD:1598626
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Inhba
inhibin subunit beta A
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chrNW_004955460:2,054,879...2,066,628
Ensembl chrNW_004955460:2,046,588...2,066,609
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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 chrNW_004955496:1,728,840...1,827,749
Ensembl chrNW_004955496:1,728,840...1,828,698
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:16406300
RGD:1582623
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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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 chrNW_004955445:8,232,084...8,237,893
Ensembl chrNW_004955445:8,231,924...8,237,996
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Socs1
suppressor of cytokine signaling 1
treatment
ISO
RGD
PMID:31894293
RGD:151347417
NCBI chrNW_004955442:7,321,337...7,323,109
Ensembl chrNW_004955442:7,321,337...7,323,109
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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 chrNW_004955410:22,003,981...22,005,483
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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 chrNW_004955429:23,011,627...23,198,188
Ensembl chrNW_004955429:23,010,790...23,198,250
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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 chrNW_004955440:10,755,658...10,881,044
Ensembl chrNW_004955440:10,756,014...10,795,491
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Gsn
gelsolin
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:25403731
RGD:329333026
NCBI chrNW_004955419:6,682,202...6,733,361
Ensembl chrNW_004955419:6,682,058...6,733,361
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Icam1
intercellular adhesion molecule 1
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
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Sele
selectin E
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chrNW_004955462:7,564,437...7,575,297
G
Vcam1
vascular cell adhesion molecule 1
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691
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Rapgef3
Rap guanine nucleotide exchange factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24218580
NCBI chrNW_004955500:6,655,056...6,674,311
Ensembl chrNW_004955500:6,655,056...6,674,311
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Adar
adenosine deaminase RNA specific
ISO
mRNA:splice variant:liver (mouse)
RGD
PMID:12228285
RGD:125097511
NCBI chrNW_004955545:1,078,319...1,106,938
Ensembl chrNW_004955545:1,078,319...1,106,938
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Ahr
aryl hydrocarbon receptor
severity
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chrNW_004955410:20,428,531...20,459,482
Ensembl chrNW_004955410:20,428,546...20,456,836
G
Ank1
ankyrin 1
ISO
RGD
PMID:23390527
RGD:11041609
NCBI chrNW_004955536:1,049,325...1,237,943
Ensembl chrNW_004955536:1,049,407...1,237,943
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29421334
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Hamp
hepcidin antimicrobial peptide
ISO
RGD
PMID:23390527
RGD:11041609
NCBI chrNW_004955468:4,576,080...4,577,591
Ensembl chrNW_004955468:4,575,510...4,577,649
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Ido1
indoleamine 2,3-dioxygenase 1
susceptibility
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chrNW_004955536:2,944,770...2,955,829
Ensembl chrNW_004955536:2,943,611...2,955,829
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16002714
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
G
Slc11a1
solute carrier family 11 member 1
ISO
RGD
PMID:14734525
RGD:5684962
NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608
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Tlr5
toll like receptor 5
ISO
mRNA, protein:increased expression:jejunum, colon (rat)
RGD
PMID:20529359
RGD:5129497
NCBI chrNW_004955520:1,544,840...1,562,081
Ensembl chrNW_004955520:1,556,523...1,559,093
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Coq7
coenzyme Q7, hydroxylase
susceptibility
ISO
RGD
PMID:23166727
RGD:10402105
NCBI chrNW_004955442:3,026,458...3,033,582
Ensembl chrNW_004955442:3,025,484...3,033,582
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Il12b
interleukin 12B
susceptibility
ISO
disseminated BCG and Salmonella enteritidis infection, OMIM:209950 DNA:deletion:intron,exon:homozygous 4.4kb deletion encompassing exons 4 and 5 and associated introns
RGD
PMID:9854038
RGD:1600042
NCBI chrNW_004955408:13,302,506...13,316,300
Ensembl chrNW_004955408:13,304,219...13,312,620
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Cftr
CF transmembrane conductance regulator
treatment
ISO
RGD
PMID:19012687
RGD:11566047
NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382
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Egf
epidermal growth factor
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chrNW_004955496:325,954...401,430
Ensembl chrNW_004955496:328,075...401,569
G
Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chrNW_004955536:2,944,770...2,955,829
Ensembl chrNW_004955536:2,943,611...2,955,829
G
Il10
interleukin 10
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
G
Il12b
interleukin 12B
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chrNW_004955408:13,302,506...13,316,300
Ensembl chrNW_004955408:13,304,219...13,312,620
G
Il1b
interleukin 1 beta
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Sting1
stimulator of interferon response cGAMP interactor 1
severity
ISO
RGD
PMID:31141689
RGD:39128194
NCBI chrNW_004955418:1,091,022...1,097,064
Ensembl chrNW_004955418:1,083,613...1,100,448
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Cd36
CD36 molecule (CD36 blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15690042
NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313
G
Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27737899
NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23661603
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
G
Il10
interleukin 10
treatment
ISO
RGD
PMID:23993644
RGD:7364979
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Il2
interleukin 2
ISO
RGD
PMID:21603642
RGD:5147906
NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
G
Il4
interleukin 4
susceptibility
ISO
DNA:SNP:promoter:-542C>T (human)
RGD
PMID:18422436
RGD:7829791
NCBI chrNW_004955408:4,058,052...4,065,999
G
Irak3
interleukin 1 receptor associated kinase 3
treatment
ISO
RGD
PMID:28954388
RGD:34888230
NCBI chrNW_004955458:12,839,995...12,880,285
Ensembl chrNW_004955458:12,846,237...12,879,316
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Ltf
lactotransferrin
ISO
RGD
PMID:10030017
RGD:7243953
NCBI chrNW_004955420:25,580,449...25,604,277
Ensembl chrNW_004955420:25,580,359...25,604,331
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Stat2
signal transducer and activator of transcription 2
ameliorates
ISO
associated with influenza A
RGD
PMID:30337919
RGD:41789626
NCBI chrNW_004955458:3,953,019...3,973,151
Ensembl chrNW_004955458:3,952,738...3,970,668
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Tlr2
toll like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23661603
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Xrn1
5'-3' exoribonuclease 1
susceptibility
ISO
DNA:snp:intron:c.2339+1477G>A (rs7643377) (human)
RGD
PMID:24847357
RGD:11530009
NCBI chrNW_004955508:3,441,540...3,561,896
Ensembl chrNW_004955508:3,441,683...3,561,805
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Akt1
AKT serine/threonine kinase 1
treatment
ISO
RGD
PMID:23613163
RGD:38676477
NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904
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Cd86
CD86 molecule
ISO
protein:decreased expression:spleen, plasmacytoid dendritic cell (mouse)
RGD
PMID:20949109
RGD:4892562
NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874
G
Cftr
CF transmembrane conductance regulator
ISO
RGD
PMID:28289144
RGD:36049750
NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382
G
Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:10228098
RGD:11039478
NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
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Fn1
fibronectin 1
ISO
RGD
PMID:12065530
RGD:7205474
NCBI chrNW_004955457:629,599...694,948
Ensembl chrNW_004955457:629,518...696,975
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Ifnar1
interferon alpha and beta receptor subunit 1
susceptibility
ISO
RGD
PMID:19603548
RGD:5490273
NCBI chrNW_004955407:32,730,973...32,755,404
Ensembl chrNW_004955407:32,730,953...32,754,651
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Il10
interleukin 10
ISO
mRNA, protein:increased expression:lung
RGD
PMID:22940620
RGD:7364825
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
G
Il15
interleukin 15
ISO
RGD
PMID:18390740
RGD:4996474
NCBI chrNW_004955471:1,496,352...1,583,919
Ensembl chrNW_004955471:1,497,483...1,511,469
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Il1b
interleukin 1 beta
ISO
RGD
PMID:20065029
RGD:4142828
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Il33
interleukin 33
ISO
mRNA:increased expression:lung:
RGD
PMID:28401938
RGD:40400699
NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948
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Nod2
nucleotide binding oligomerization domain containing 2
ISO
RGD
PMID:20493961
RGD:5131444
NCBI chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
protein:increased expression:lung (mouse)
RGD
PMID:28663335
RGD:13432209
NCBI chrNW_004955439:18,664,230...19,953,358
Ensembl chrNW_004955439:18,664,379...19,951,152
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Ptpn11
protein tyrosine phosphatase non-receptor type 11
severity
ISO
associated with influenza mRNA:increased expression:lung
RGD
PMID:31782850
RGD:39131288
NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
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Ripk3
receptor interacting serine/threonine kinase 3
treatment
ISO
RGD
PMID:25445964
RGD:127229910
NCBI chrNW_004955409:35,961,604...35,965,477
Ensembl chrNW_004955409:35,937,880...35,965,712
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Sftpb
surfactant protein B
ameliorates
ISO
RGD
PMID:20007532
RGD:151667448
NCBI chrNW_004955424:1,849,313...1,858,087
Ensembl chrNW_004955424:1,849,314...1,858,087
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Il17a
interleukin 17A
ISO
RGD
PMID:24614654
RGD:9068425
NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
G
Il18
interleukin 18
treatment
ISO
RGD
PMID:21536791
RGD:8655921
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
G
Il33
interleukin 33
treatment
ISO
mRNA,protein:increased expression:skin
RGD
PMID:23892028
RGD:40400893
NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948
G
Ripk3
receptor interacting serine/threonine kinase 3
ameliorates
ISO
RGD
PMID:27524612
RGD:127229915
NCBI chrNW_004955409:35,961,604...35,965,477
Ensembl chrNW_004955409:35,937,880...35,965,712
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Serpinf1
serpin family F member 1
severity
ISO
RGD
PMID:25515118
RGD:36174009
NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241
G
Cd86
CD86 molecule
ISO
associated with Encephalomyelitis, Experimental Autoimmune; protein:increased expression:spleen, dendritic cell (mouse)
RGD
PMID:16861672
RGD:4892553
NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874
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Il17a
interleukin 17A
ISO
protein:increased expression:serum (mouse)
RGD
PMID:22384827
RGD:8698662
NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
G
Tlr2
toll like receptor 2
severity
ISO
RGD
PMID:19179417
RGD:7240559
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tnf
tumor necrosis factor
IEP
associated with Otitis Media
RGD
PMID:8302123
RGD:11554174
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
G
Poldip2
DNA polymerase delta interacting protein 2
treatment
ISO
RGD
PMID:32790044
RGD:124713556
NCBI chrNW_004955481:4,776,721...4,785,817
Ensembl chrNW_004955481:4,776,721...4,785,817
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Atm
ATM serine/threonine kinase
exacerbates
ISO
RGD
PMID:27421701
RGD:126779562
NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
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Btk
Bruton tyrosine kinase
ISO
RGD
PMID:30873567
RGD:124715473
NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:20385761
RGD:39938865
NCBI chrNW_004955536:2,944,770...2,955,829
Ensembl chrNW_004955536:2,943,611...2,955,829
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Ifng
interferon gamma
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Il6
interleukin 6
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chrNW_004955410:25,079,835...25,084,390
G
Irak3
interleukin 1 receptor associated kinase 3
severity
ISO
RGD
PMID:22492852
RGD:35316076
NCBI chrNW_004955458:12,839,995...12,880,285
Ensembl chrNW_004955458:12,846,237...12,879,316
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Itgb2
integrin subunit beta 2
susceptibility
ISO
RGD
PMID:11390487
RGD:127345090
NCBI chrNW_004955407:41,779,849...41,805,637
Ensembl chrNW_004955407:41,777,777...41,800,201
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Lamp1
lysosomal associated membrane protein 1
ISO
protein:increased expression:lung, natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chrNW_004955404:557,090...573,532
Ensembl chrNW_004955404:557,862...573,379
G
Marco
macrophage receptor with collagenous structure
exacerbates
ISO
RGD
PMID:15263032
RGD:41412189
NCBI chrNW_004955459:10,700,645...10,739,222
Ensembl chrNW_004955459:10,698,294...10,739,131
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:25624454
RGD:40818422
NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
G
Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
treatment
ISO
associated with immunodeficiency 14
RGD
PMID:30093657
RGD:40890269
NCBI chrNW_004955486:3,813,923...3,837,563
Ensembl chrNW_004955486:3,813,923...3,838,119
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
severity
ISO
RGD
PMID:17322108
RGD:38599154
NCBI chrNW_004955410:11,402,476...11,433,335
Ensembl chrNW_004955410:11,402,520...11,437,422
G
Ripk3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:33625952
RGD:127229925
NCBI chrNW_004955409:35,961,604...35,965,477
Ensembl chrNW_004955409:35,937,880...35,965,712
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Tnf
tumor necrosis factor
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
G
Foxp3
forkhead box P3
treatment
ISO
RGD
PMID:27284313
RGD:38456006
NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
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Nefl
neurofilament light chain
ISO
associated with age;protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chrNW_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026
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Trem2
triggering receptor expressed on myeloid cells 2
ISO
associated with age;protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chrNW_004955437:7,780,886...7,785,597
Ensembl chrNW_004955437:7,780,679...7,785,697
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Rapgef3
Rap guanine nucleotide exchange factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24218580
NCBI chrNW_004955500:6,655,056...6,674,311
Ensembl chrNW_004955500:6,655,056...6,674,311
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Cd40
CD40 molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
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Cd40lg
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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Adk
adenosine kinase
ISO
RGD
PMID:8207212
RGD:6482670
NCBI chrNW_004955437:17,279,541...17,786,140
Ensembl chrNW_004955437:17,279,240...17,786,079
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Adm
adrenomedullin
ISO
RGD
PMID:17318497 PMID:17766482
RGD:1625310 RGD:1642599
NCBI chrNW_004955414:25,951,473...25,953,593
Ensembl chrNW_004955414:25,951,349...25,953,645
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Adrb2
adrenoceptor beta 2
disease_progression treatment
ISO
DNA:polymorphism: :rs1042717(human)
RGD
PMID:16076286 PMID:19850944
RGD:8548487 RGD:8548529
NCBI chrNW_004955415:5,515,157...5,517,198
Ensembl chrNW_004955415:5,515,697...5,516,980
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Ager
advanced glycosylation end-product specific receptor
ISO
RGD
PMID:21270403
RGD:6767566
NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
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Aqp1
aquaporin 1 (Colton blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24028651
NCBI chrNW_004955410:32,066,196...32,078,661
Ensembl chrNW_004955410:32,066,196...32,078,717
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C5ar1
complement C5a receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18063050
NCBI chrNW_004955574:1,221,942...1,229,634
Ensembl chrNW_004955574:1,221,187...1,231,655
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Cckbr
cholecystokinin B receptor
ISO
mRNA:increased expression:myocardium
RGD
PMID:15948246
RGD:2311332
NCBI chrNW_004955414:22,001,351...22,011,275
Ensembl chrNW_004955414:22,000,436...22,011,433
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Cd274
CD274 molecule
severity
ISO
protein:increased expression:serum protein:increased expression:lymphocyte, mononcyte
RGD
PMID:26063974 PMID:29702526
RGD:40822808 RGD:41410786
NCBI chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904
G
Eno2
enolase 2
ISO
proteiin:increased expression:serum
RGD
PMID:17083782
RGD:2293748
NCBI chrNW_004955413:4,498,625...4,506,769
Ensembl chrNW_004955413:4,498,625...4,506,769
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F2
coagulation factor II, thrombin
severity
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:2788582
RGD:40822807
NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
G
Fancc
FA complementation group C
ISO
RGD
PMID:17404312
RGD:11045879
NCBI chrNW_004955422:22,031,825...22,246,478
Ensembl chrNW_004955422:22,032,258...22,247,044
G
Gc
GC vitamin D binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17852808
NCBI chrNW_004955447:1,361,698...1,400,633
Ensembl chrNW_004955447:1,361,566...1,402,491
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Grk2
G protein-coupled receptor kinase 2
ISO
mRNA:decreased expression:polymorphonuclear leukocyte
RGD
PMID:24465168
RGD:126848796
NCBI chrNW_004955422:18,173,438...18,192,357
Ensembl chrNW_004955422:18,170,616...18,192,412
G
Hmox1
heme oxygenase 1
ISO
RGD
PMID:18208666
RGD:4145362
NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
G
Ido1
indoleamine 2,3-dioxygenase 1
severity
ISO
protein:increased activity, increased expression:plasma, heart (human)
RGD
PMID:21765346
RGD:39939075
NCBI chrNW_004955536:2,944,770...2,955,829
Ensembl chrNW_004955536:2,943,611...2,955,829
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Ifng
interferon gamma
ISO
protein:increased expression:plasma
RGD
PMID:25403265
RGD:38455982
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Il10
interleukin 10
severity onset
ISO
protein:increased expression:lung (mouse) protein:increased expression:plasma
RGD
PMID:7593621 PMID:12117955 PMID:25403265 PMID:28659355
RGD:11049456 RGD:1598471 RGD:38455982 RGD:40890272
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Il19
interleukin 19
ISO
protein:increased expression:serum
RGD
PMID:18246602
RGD:5037232
NCBI chrNW_004955406:42,376,102...42,384,902
Ensembl chrNW_004955406:42,376,104...42,384,902
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Il1b
interleukin 1 beta
severity
ISO
protein:increased expression:lung (mouse)
RGD
PMID:28659355
RGD:40890272
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
G
Il1rn
interleukin 1 receptor antagonist
treatment susceptibility
ISO
human gene in a mouse model associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism::
RGD
PMID:15516267 PMID:23014359
RGD:11522756 RGD:8551736
NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
G
Il20ra
interleukin 20 receptor subunit alpha
ISO
mRNA:increased expression:multiple
RGD
PMID:18246602
RGD:5037232
NCBI chrNW_004955436:22,281,422...22,323,242
Ensembl chrNW_004955436:22,281,713...22,326,229
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Il20rb
interleukin 20 receptor subunit beta
ISO
mRNA:increased expression:multiple
RGD
PMID:18246602
RGD:5037232
NCBI chrNW_004955501:1,826,687...1,863,261
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Il27
interleukin 27
ISO
protein, mRNA:increased expression:blood serum, spleen (mouse)
RGD
PMID:20435892
RGD:126790535
NCBI chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417
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Il6
interleukin 6
treatment
ISO
RGD
PMID:2124237
RGD:11060276
NCBI chrNW_004955410:25,079,835...25,084,390
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LOC102018844
neutrophil elastase
treatment
ISO
RGD
PMID:18323746
RGD:10450579
NCBI chrNW_004955495:6,964,577...6,967,208
Ensembl chrNW_004955495:6,964,667...6,967,106
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LOC102019320
mamu class II histocompatibility antigen, DR alpha chain
disease_progression
ISO
CTD Direct Evidence: marker/mechanism associated with Burns
RGD CTD
PMID:15644645 PMID:17568330 PMID:28771573
RGD:5490160 RGD:5490203
NCBI chrNW_004955437:1,109,735...1,114,742
Ensembl chrNW_004955437:1,109,713...1,114,802
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LOC102021956
alpha-2-macroglobulin
treatment
ISO
RGD
PMID:2424486
RGD:10046036
NCBI chrNW_004955413:6,019,457...6,062,366
Ensembl chrNW_004955413:6,019,082...6,062,529
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Mbl2
mannose binding lectin 2
susceptibility
ISO
associated with acute pyelonephritis;DNA:SNPs, missense mutations, haplotypes:promoter, cds:multiple
RGD
PMID:17202308
RGD:6903268
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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Mc2r
melanocortin 2 receptor
ISO
protein:increased expression:liver (rat)
RGD
PMID:2822467
RGD:6484558
NCBI chrNW_004955402:190,513...225,627
Ensembl chrNW_004955402:190,513...225,627
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Mif
macrophage migration inhibitory factor
ISO
RGD
PMID:17381395 PMID:17565848
RGD:1641978 RGD:4891013
NCBI chrNW_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460
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Nfkbia
NFKB inhibitor alpha
treatment
ISO
RGD
PMID:11961112
RGD:126928137
NCBI chrNW_004955409:25,691,673...25,695,151
Ensembl chrNW_004955409:25,691,534...25,697,520
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:8745224 PMID:16601845
RGD:1580268
NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
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Nppc
natriuretic peptide C
ISO
protein:increased expression:plasma
RGD
PMID:8117275
RGD:1642297
NCBI chrNW_004955453:3,884,580...3,888,494
Ensembl chrNW_004955453:3,884,560...3,888,850
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Ogg1
8-oxoguanine DNA glycosylase
ISO
RGD
PMID:15677345
RGD:8657146
NCBI chrNW_004955561:1,277,362...1,282,949
Ensembl chrNW_004955561:1,277,365...1,282,793
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Parp1
poly(ADP-ribose) polymerase 1
ISO
RGD
PMID:12445868
RGD:10414070
NCBI chrNW_004955489:520,875...557,609
Ensembl chrNW_004955489:520,875...557,615
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Pdcd1
programmed cell death 1
severity
ISO
protein:increased expression:serum protein:increased expression:lymphocyte, mononcyte
RGD
PMID:26063974 PMID:29702526
RGD:40822808 RGD:41410786
NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
severity
ISO
RGD
PMID:28659355
RGD:40890272
NCBI chrNW_004955486:3,813,923...3,837,563
Ensembl chrNW_004955486:3,813,923...3,838,119
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Plaur
plasminogen activator, urokinase receptor
ISO
RGD
PMID:20693875
RGD:6484122
NCBI chrNW_004955555:1,378,505...1,393,395
Ensembl chrNW_004955555:1,378,793...1,393,324
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
treatment
ISO
RGD
PMID:19320827 PMID:21850534
RGD:11100015 RGD:11100041
NCBI chrNW_004955459:3,097,229...3,105,566
Ensembl chrNW_004955459:3,094,120...3,104,135
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Ptx3
pentraxin 3
ISO
protein:increased expression:plasma (human)
RGD
PMID:30687307
RGD:38508896
NCBI chrNW_004955448:8,366,795...8,373,010
Ensembl chrNW_004955448:8,366,925...8,372,411
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Ren
renin
exacerbates
ISO
protein:increased activity:blood plasma (human)
RGD
PMID:31723628
RGD:125097502
NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286
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Sell
selectin L
ISO
protein:increased expression:plasma
RGD
PMID:19375498
RGD:5685700
NCBI chrNW_004955462:7,591,997...7,611,408
Ensembl chrNW_004955462:7,591,366...7,612,846
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Serpinc1
serpin family C member 1
treatment
ISO
RGD
PMID:16732381
RGD:1599323
NCBI chrNW_004955406:14,024,183...14,036,206
Ensembl chrNW_004955406:14,024,313...14,035,948
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Serpine1
serpin family E member 1
susceptibility
ISO
associated with Pneumonia; DNA:polymorphism:promoter:rs1799768 (human)
RGD
PMID:20429897
RGD:4144828
NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
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Serpinf1
serpin family F member 1
severity
ISO
protein:decreased expression:plasma (human)
RGD
PMID:6158114
RGD:36174004
NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241
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Serping1
serpin family G member 1
treatment
ISO
RGD
PMID:8172580
RGD:8661646
NCBI chrNW_004955511:2,545,337...2,557,850
Ensembl chrNW_004955511:2,545,285...2,557,982
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Sftpb
surfactant protein B
ISO
associated with Pneumonia;DNA:polymorphism: :1580C>T (human)
RGD
PMID:15190959
RGD:4143404
NCBI chrNW_004955424:1,849,313...1,858,087
Ensembl chrNW_004955424:1,849,314...1,858,087
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Socs1
suppressor of cytokine signaling 1
severity
ISO
RGD
PMID:19469017
RGD:150573701
NCBI chrNW_004955442:7,321,337...7,323,109
Ensembl chrNW_004955442:7,321,337...7,323,109
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Tbxa2r
thromboxane A2 receptor
treatment
ISO
RGD
PMID:7816742
RGD:11059599
NCBI chrNW_004955495:5,539,382...5,557,441
Ensembl chrNW_004955495:5,539,889...5,557,441
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Tfpi
tissue factor pathway inhibitor
treatment
ISO
RGD
PMID:11776329
RGD:11062085
NCBI chrNW_004955403:10,925,155...11,004,229
Ensembl chrNW_004955403:10,924,893...11,004,284
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Thpo
thrombopoietin
ISO
protein:increased expression:serum:
RGD
PMID:20467749
RGD:10449021
NCBI chrNW_004955420:23,120,828...23,128,894
Ensembl chrNW_004955420:23,123,637...23,129,198
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Tnf
tumor necrosis factor
treatment
ISO
protein:increased expression:peritoneal macrophage, cell surface (rat) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:2213560 PMID:12622907 PMID:20054000
RGD:10449465 RGD:1598936
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Zc3h12a
zinc finger CCCH-type containing 12A
ISO
RGD
PMID:23422584
RGD:39938961
NCBI chrNW_004955452:15,306,398...15,314,959
Ensembl chrNW_004955452:15,305,775...15,314,959
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Cxcl8
C-X-C motif chemokine ligand 8
susceptibility
ISO
DNA:SNP:promoter:g.-251A>T (rs4073) (human)
RGD
PMID:20015396
RGD:150520200
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Il10
interleukin 10
severity no_association
ISO
DNA:haplotype: : DNA:SNP:promoter:−819T>C, −592A>C (human) protein:increased expression:tear DNA:SNP:promoter:−1082G>A (human) DNA:SNP, haplotype:promoter:−1082G>A (human)
RGD
PMID:11023480 PMID:15789056 PMID:17947295 PMID:18628987
RGD:7365037 RGD:7365053 RGD:7365072 RGD:7365085
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Il17a
interleukin 17A
ISO
mRNA:increased expression:conjunctiva (human)
RGD
PMID:21911461
RGD:9068420
NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
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Tnf
tumor necrosis factor
ISO
DNA:SNP, haplotypes:promoter:−308G>A (human)
RGD
PMID:17330135
RGD:8548830
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Col1a1
collagen type I alpha 1 chain
ISO
mRNA:decreased expression:tarsal conjunctiva (human)
RGD
PMID:20375326
RGD:8552676
NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
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Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:9062973
RGD:5147851
NCBI chrNW_004955437:1,480,217...1,499,032
Ensembl chrNW_004955437:1,477,341...1,498,575
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Ager
advanced glycosylation end-product specific receptor
severity
ISO
RGD
PMID:22698798
RGD:6767307
NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
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Btnl2
butyrophilin like 2
no_association susceptibility
ISO
DNA:SNPs,haplotypes: : DNA:SNPs,haplotypes: : rs3763313, rs9268494, rs9268492(human)
RGD
PMID:17347014 PMID:20176143
RGD:9685035 RGD:9685036
NCBI chrNW_004955437:1,084,330...1,101,751
Ensembl chrNW_004955437:1,083,745...1,101,730
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Cbs
cystathionine beta-synthase
severity
ISO
protein:increased expression:macrophages (mouse)
RGD
PMID:31992699
RGD:40903052
NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790
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Ccl1
C-C motif chemokine ligand 1
susceptibility
ISO
DNA:SNP: :rs159294, rs210837, rs10491110 (human)
RGD
PMID:19057661
RGD:4891408
NCBI chrNW_004955481:9,085,943...9,089,147
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Cd274
CD274 molecule
ISO
mRNA, protein:increased expression:blood, neutrophil
RGD
PMID:21509782
RGD:41412173
NCBI chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904
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Cd86
CD86 molecule
ISO
protein:increased expression:lung (mouse)
RGD
PMID:18292558
RGD:4892329
NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874
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Cd8a
CD8 subunit alpha
susceptibility
ISO
mRNA:decreased expression:blood (human) associated with human immunodeficiency virus infectious disease;mRNA:increased expression:whole blood (human)
RGD
PMID:26725873 PMID:27553407
RGD:124715445 RGD:124715450
NCBI chrNW_004955424:952,595...979,159
Ensembl chrNW_004955424:952,502...978,636
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Cebpb
CCAAT enhancer binding protein beta
ISO
mRNA:increased expression:lung, spleen (mouse)
RGD
PMID:28558034
RGD:40903038
NCBI chrNW_004955445:8,060,432...8,061,289
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Ciita
class II major histocompatibility complex transactivator
susceptibility
ISO
knockouts show increased susceptibility to infection by all available criteria including mycobacterial growth, lung damage and survival time
RGD
PMID:12828554
RGD:5491205
NCBI chrNW_004955442:7,600,903...7,647,619
Ensembl chrNW_004955442:7,603,893...7,647,624
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Cish
cytokine inducible SH2 containing protein
susceptibility
ISO
ClinVar Annotator: match by term: Tuberculosis, susceptibility to
OMIM ClinVar
PMID:20484391
NCBI chrNW_004955532:2,380,380...2,386,000
Ensembl chrNW_004955532:2,378,088...2,386,000
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Coro1a
coronin 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16040207
NCBI chrNW_004955493:6,815,148...6,820,295
Ensembl chrNW_004955493:6,811,430...6,826,485
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Cxcl8
C-X-C motif chemokine ligand 8
susceptibility
ISO
DNA:SNP:promoter:-251A>T (human) protein:increased expression:blood plasma, erythrocyte (human)
RGD
PMID:26300588 PMID:32393145
RGD:11250849 RGD:150520198
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:serum
RGD
PMID:19281538
RGD:5135308
NCBI chrNW_004955433:724,566...731,945
Ensembl chrNW_004955433:724,515...732,192
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Ereg
epiregulin
susceptibility
ISO
DNA:SNP:intron: (rs7675690) (human)
RGD
PMID:22170233
RGD:39457686
NCBI chrNW_004955474:612,440...627,606
Ensembl chrNW_004955474:612,440...627,606
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Has1
hyaluronan synthase 1
ISO
RGD
PMID:19876387
RGD:9588638
NCBI chrNW_004955558:826,853...836,809
Ensembl chrNW_004955558:826,853...836,809
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Ifng
interferon gamma
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against
ClinVar OMIM
PMID:10663562 PMID:11053629 PMID:12788577 PMID:18414898
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Ifngr1
interferon gamma receptor 1
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar OMIM
PMID:9389728 PMID:10192386 PMID:11583830 PMID:12516030 PMID:16195661 PMID:16690980 PMID:18171304 PMID:19488747 PMID:20015550 PMID:21266457 PMID:25741868 PMID:28492532 PMID:28902581 More...
NCBI chrNW_004955436:22,183,318...22,199,013
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Il12rb1
interleukin 12 receptor subunit beta 1
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar
PMID:9603733 PMID:12591909 PMID:28492532
NCBI chrNW_004955524:3,276,932...3,299,617
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Il15
interleukin 15
ISO
mRNA:altered expression:lung, spleen
RGD
PMID:16367949
RGD:4987456
NCBI chrNW_004955471:1,496,352...1,583,919
Ensembl chrNW_004955471:1,497,483...1,511,469
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Il22
interleukin 22
ISO
RGD
PMID:21767990
RGD:5147402
NCBI chrNW_004955458:14,747,339...14,755,602
Ensembl chrNW_004955458:14,747,084...14,752,553
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Il27
interleukin 27
exacerbates
ISO
associated with Pleural Effusion;protein:increased expression:pleural effusion (human) mRNA:increased expression:blood (human)
RGD
PMID:25511588 PMID:26282876
RGD:11086047 RGD:126790514
NCBI chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417
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Il33
interleukin 33
ISO
associated with Pleural Effusion;protein:increased expression:pleural biopsy
RGD
PMID:25755791
RGD:40400701
NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948
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Irak3
interleukin 1 receptor associated kinase 3
ISO
mRNA, protein:increased expression:sputum (human)
RGD
PMID:19535630
RGD:36049800
NCBI chrNW_004955458:12,839,995...12,880,285
Ensembl chrNW_004955458:12,846,237...12,879,316
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Irgm
immunity related GTPase M
ISO
OMIM
NCBI chrNW_004955408:2,338,510...2,344,566
G
Mapkapk3
MAPK activated protein kinase 3
ISO
ClinVar Annotator: match by term: Tuberculosis, susceptibility to
ClinVar
PMID:20484391
NCBI chrNW_004955532:2,392,539...2,419,219
Ensembl chrNW_004955532:2,392,539...2,420,604
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
ISO
DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human)
RGD
PMID:31586142
RGD:42722614
NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944
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Nrg1
neuregulin 1
susceptibility
ISO
DNA:SNP, haplotype: (rs16879814)
RGD
PMID:25919455
RGD:39456091
NCBI chrNW_004955463:8,009,436...9,037,116
Ensembl chrNW_004955463:8,009,530...9,037,116
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:27865385
RGD:41412174
NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
RGD
PMID:30514491
RGD:38599199
NCBI chrNW_004955410:11,402,476...11,433,335
Ensembl chrNW_004955410:11,402,520...11,437,422
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Ripk3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:29892302
RGD:127229926
NCBI chrNW_004955409:35,961,604...35,965,477
Ensembl chrNW_004955409:35,937,880...35,965,712
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Slc11a1
solute carrier family 11 member 1
susceptibility
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by
OMIM ClinVar
PMID:16103355 PMID:25741868
NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608
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Sp110
SP110 nuclear body protein
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar OMIM
PMID:16803959 PMID:16816019 PMID:17149599 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chrNW_004955453:4,915,541...4,939,438
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Sp140
SP140 nuclear body protein
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar
PMID:16803959 PMID:16816019 PMID:17149599 PMID:25741868 PMID:28492532
NCBI chrNW_004955453:4,864,812...4,911,699
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:15863395
RGD:1581371
NCBI chrNW_004955474:1,914,477...1,922,025
Ensembl chrNW_004955474:1,913,829...1,922,016
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29791904
RGD:39128196
NCBI chrNW_004955418:1,091,022...1,097,064
Ensembl chrNW_004955418:1,083,613...1,100,448
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Tirap
TIR domain containing adaptor protein
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar OMIM
PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868
NCBI chrNW_004955412:27,303,548...27,315,031
Ensembl chrNW_004955412:27,312,489...27,315,031
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Tlr1
toll like receptor 1
susceptibility
ISO
DNA:snps, haplotype:cds:p.N248S, p.S602I (human)
RGD
PMID:18091991
RGD:7246918
NCBI chrNW_004955443:8,442,419...8,450,318
Ensembl chrNW_004955443:8,447,956...8,450,382
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Tlr2
toll like receptor 2
susceptibility
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
OMIM ClinVar
PMID:14979495 PMID:16081826 PMID:22992740 PMID:25741868 PMID:28492532
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tlr4
toll like receptor 4
ISO
RGD
PMID:12218133
RGD:4144821
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Tlr6
toll like receptor 6
susceptibility
ISO
DNA:missense mutations:cds:multiple (human)
RGD
PMID:18091991
RGD:7246918
NCBI chrNW_004955443:8,401,461...8,427,175
Ensembl chrNW_004955443:8,422,534...8,424,942
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:20537163
RGD:4143229
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
DNA:snp:3' utr:g.*215C>T rs3397 (human)
RGD
PMID:20007930
RGD:5131209
NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30202016
NCBI chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117
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Vdr
vitamin D receptor
susceptibility
ISO
associated with HIV Infections;DNA:SNPs:3' UTR (human)
RGD
PMID:18712587
RGD:4889839
NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
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Cd86
CD86 molecule
ISO
protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:16272336
RGD:4892560
NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874
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Ifng
interferon gamma
ISO
protein:increased expression:serum
RGD
PMID:26853540
RGD:14974256
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Il17a
interleukin 17A
ISO
RGD
PMID:20585449
RGD:4888521
NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:25296161
RGD:39458039
NCBI chrNW_004955458:3,946,964...3,949,180
Ensembl chrNW_004955458:3,947,803...3,949,312
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:17202364
RGD:5130727
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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Cftr
CF transmembrane conductance regulator
susceptibility
ISO
DNA:repeats: :CA repeats(human)
RGD
PMID:16078047
RGD:35673348
NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382
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Lta
lymphotoxin alpha
susceptibility
ISO
DNA:SNP::
RGD
PMID:11120931
RGD:36049756
NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529
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Tlr2
toll like receptor 2
ISO
RGD
PMID:25667264
RGD:11061268
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:-308G>A (rs1800629) (human)
RGD
PMID:11120931
RGD:36049756
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Ctla4
cytotoxic T-lymphocyte associated protein 4
susceptibility
ISO
DNA:SNPs:multiple:Gabonese(human)
RGD
PMID:22288822
RGD:7204674
NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
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Il5
interleukin 5
resistance
ISO
RGD
PMID:9697734
RGD:7241010
NCBI chrNW_004955408:3,937,128...3,951,784
Ensembl chrNW_004955408:3,937,894...3,939,358
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Stat6
signal transducer and activator of transcription 6
severity
ISO
DNA:SNP:enhancer: (rs324013)
RGD
PMID:18273035
RGD:7243977
NCBI chrNW_004955458:4,833,417...4,847,956
Ensembl chrNW_004955458:4,833,515...4,843,273
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Cxcl8
C-X-C motif chemokine ligand 8
treatment
ISO
human recombinant protein in a mouse model
RGD
PMID:28011398
RGD:150520199
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Cxcr1
C-X-C motif chemokine receptor 1
ISO
RGD
PMID:21151974
RGD:7207862
NCBI chrNW_004955453:15,181,027...15,196,224
Ensembl chrNW_004955453:15,194,205...15,195,272
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Il18
interleukin 18
ISO
protein:increased expression:urine
RGD
PMID:19171043
RGD:2311084
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
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Il1a
interleukin 1 alpha
ISO
protein:increased expression:urine
RGD
PMID:19171043 PMID:21690238
RGD:2311084 RGD:6907113
NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
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Il1b
interleukin 1 beta
ISO
protein:increased expression:urine
RGD
PMID:19171043 PMID:20886104
RGD:2311084 RGD:7175340
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9011564
NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6254450
NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
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Tlr2
toll like receptor 2
susceptibility
ISO
DNA:polymorphism: :p.R753Q (human)
RGD
PMID:18001294
RGD:7240561
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tlr4
toll like receptor 4
susceptibility
ISO
DNA:snp:cds:p.D299G (human)
RGD
PMID:19543401
RGD:7246906
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all