RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Bacterial Infections and Mycoses
Accession: DOID:9004384
browse the term
Definition: Infections caused by bacteria and fungi, general, specified, or unspecified.
Synonyms: primary_id: MESH:D001423
subset: RGD_JBrowse_slim
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Irak4
interleukin-1 receptor-associated kinase 4
susceptibility
ISO
deficiency of IRAK4/extracellular pyogenic bacterial and fungal infections, OMIM:607676
RGD
PMID:12637671
RGD:1600199
NCBI chr 7:125,682,502...125,708,294
Ensembl chr 7:125,682,488...125,717,837
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Abcb1a
ATP binding cassette subfamily B member 1A
treatment
ISO
DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human) DNA:SNP: : rs10276036(human)
RGD
PMID:23372834 PMID:24517233
RGD:39456119 , RGD:11098698
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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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:28069446 PMID:21107268
RGD:401901288 , RGD:401901289
NCBI chr10:49,655,583...49,822,876
Ensembl chr10:49,655,584...49,824,297
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Bst2
bone marrow stromal cell antigen 2
ISO
DNA:SNPs: :
RGD
PMID:26885809
RGD:14398494
NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979
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Ccl4
C-C motif chemokine ligand 4
ISO
DNA:SNP:3' utr:rs1719153 (human)
RGD
PMID:16773571
RGD:5683896
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Ccr5
C-C motif chemokine receptor 5
ISO
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to
ClinVar
PMID:9742978 PMID:12610055 PMID:12815099
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd209d
CD209d molecule
disease_progression
ISO
associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human)
RGD
PMID:17530998
RGD:39939010
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:9499800
RGD:11344976
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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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 chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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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 chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Ifna1
interferon, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9612607
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to
CTD ClinVar
PMID:9612607 PMID:12854077
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Igf2
insulin-like growth factor 2
ISO
protein:decreased expression:plasma
RGD
PMID:11232005
RGD:5509969
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Il2
interleukin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9861562
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Kir3dl1
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
severity
ISO
DNA:missense mutation:cds: p.I47V (rs643347) (human)
RGD
PMID:29461980
RGD:38676267
NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050
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Ncr1
natural cytotoxicity triggering receptor 1
ISO
protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD
PMID:27382604
RGD:40818276
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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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 chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799
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RT1-CE15
RT1 class I, locus CE15
susceptibility
ISO
DNA:polymorphism: :HLA-A31
RGD
PMID:19030725
RGD:36049809
NCBI chr20:3,275,575...3,279,074
Ensembl chr20:3,264,172...3,279,563 Ensembl chr20:3,264,172...3,279,563
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RT1-CE16
RT1 class I, locus CE16
susceptibility
ISO
DNA:polymorphism: :HLA-A31
RGD
PMID:19030725
RGD:36049809
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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Tnf
tumor necrosis factor
ISO
RGD
PMID:8548330
RGD:12904035
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:8548330
RGD:12904035
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
RGD
PMID:8548330
RGD:12904035
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Vdr
vitamin D receptor
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Cd163
CD163 molecule
ISO
protein:increased expression:lung (pig)
RGD
PMID:33287430
RGD:127345134
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Defb1
defensin beta 1
IEP
mRNA:increased expression:gingival epithelium
RGD
PMID:17076783
RGD:4892269
NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
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Adrb2
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Epo
erythropoietin
treatment
ISO
RGD
PMID:20818790
RGD:10395393
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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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 chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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Il1b
interleukin 1 beta
IEP
protein:increased expression:neocortex
RGD
PMID:17678975
RGD:1626641
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Insr
insulin receptor
severity
ISO
protein:increased expression:cerebrospinal fluid, plasma
RGD
PMID:22629383
RGD:10403033
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Irs1
insulin receptor substrate 1
severity
ISO
protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte
RGD
PMID:22629383
RGD:10403033
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
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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:30105502 PMID:27400930
RGD:127284876 , RGD:127284885
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Npy
neuropeptide Y
severity
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:8815163
RGD:10431910
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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Oprm1
opioid receptor, mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
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Pdgfb
platelet derived growth factor subunit B
ISO
RGD
PMID:21368226
RGD:6482787
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Slc6a4
solute carrier family 6 member 4
ISO
RGD
PMID:25404050
RGD:38676266
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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Agtr1a
angiotensin II receptor, type 1a
ISO
RGD
PMID:2
RGD:1303381
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Agtr2
angiotensin II receptor, type 2
ISO
RGD
PMID:2
RGD:1303381
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Egf
epidermal growth factor
ISO
RGD
PMID:19357719
RGD:6906909
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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Hp
haptoglobin
ISO
protein:increased expression:urine
RGD
PMID:19279121
RGD:11041816
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Mtor
mechanistic target of rapamycin kinase
ISO
RGD
PMID:23678040 PMID:23678040
RGD:7245474 , RGD:7245474
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Myh9
myosin, heavy chain 9
ISO
protein:decreased expression:glomerulus
RGD
PMID:22313957
RGD:6903274
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Notch4
notch receptor 4
IEP
protein: increased expression: kidney
RGD
PMID:20706108
RGD:6480788
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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Nphs1
NPHS1 adhesion molecule, nephrin
treatment
ISO
RGD
PMID:19188342 PMID:17229913
RGD:38596324 , RGD:38599164
NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
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Klrk1
killer cell lectin like receptor K1
treatment
ISO
RGD
PMID:23018378
RGD:39018554
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10861090
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Cd4
Cd4 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9546790
NCBI chr 4:157,668,878...157,695,366
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9379333
NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
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Ccl17
C-C motif chemokine ligand 17
ISO
associated with Cystic Fibrosis
RGD
PMID:17898016
RGD:4145612
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:15951834
RGD:5688155
NCBI chr 8:123,556,286...123,561,841
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:10946288
RGD:8661731
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Cftr
CF transmembrane conductance regulator
ISO
DNA:mutations: :
RGD
PMID:11243954
RGD:4140482
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:7743671
RGD:8547590
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Mbl2
mannose binding lectin 2
susceptibility
ISO
Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human) DNA:SNP:intron:1011G>A(human)
RGD
PMID:11474427 PMID:16487239
RGD:4889577 , RGD:8693711
NCBI chr 1:228,016,439...228,024,736
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human)
RGD
PMID:23278646
RGD:36049760
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
associated with cystic fibrosis; DNA:polymorphisms: :
RGD
PMID:23278646
RGD:36049760
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Tlr9
toll-like receptor 9
susceptibility
ISO
DNA:SNP:promoter:g.-1237T>C rs5743836 (human)
RGD
PMID:18275280 PMID:18936185
RGD:5130863 , RGD:5130858
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnf
tumor necrosis factor
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1a
TNF receptor superfamily member 1A
susceptibility
ISO
DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human)
RGD
PMID:20646338
RGD:5131174
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Il1rl1
interleukin 1 receptor-like 1
treatment
ISO
mRNA:increased expression:brain:
RGD
PMID:24657070 PMID:23148283
RGD:11561855 , RGD:40400713
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il33
interleukin 33
ISO
protein:increased expression:brain:
RGD
PMID:23148283 PMID:24076431
RGD:40400713 , RGD:40400715
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Il5
interleukin 5
ISO
RGD
PMID:8361777
RGD:11354948
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Mag
myelin-associated glycoprotein
disease_progression
ISO
RGD
PMID:20399564
RGD:27226693
NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656
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Mbp
myelin basic protein
disease_progression
ISO
RGD
PMID:20399564
RGD:27226693
NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
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Mobp
myelin-associated oligodendrocyte basic protein
disease_progression
ISO
RGD
PMID:20399564
RGD:27226693
NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:17545018
RGD:7483603
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Cd8a
CD8 subunit alpha
ISO
mRNA:decreased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Foxp3
forkhead box P3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Ifna1
interferon, alpha 1
treatment
ISO
RGD
PMID:25774455
RGD:36174028
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
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Il10
interleukin 10
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il12b
interleukin 12B
treatment
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:7829774 , RGD:40400714
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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Il2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:31414711
RGD:127285371
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Il4
interleukin 4
treatment
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:7829774 , RGD:40400714
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Klrk1
killer cell lectin like receptor K1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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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 chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Ncr1
natural cytotoxicity triggering receptor 1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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Pdcd1
programmed cell death 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ptpn6
protein tyrosine phosphatase, non-receptor type 6
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
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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 chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Tgfb1
transforming growth factor, beta 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tlr2
toll-like receptor 2
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr3
toll-like receptor 3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Tlr4
toll-like receptor 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr7
toll-like receptor 7
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754
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Tlr8
toll-like receptor 8
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:27,091,780...27,116,092
Ensembl chr X:27,091,778...27,116,549
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Tlr9
toll-like receptor 9
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnf
tumor necrosis factor
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf18
TNF receptor superfamily member 18
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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Antxr2
ANTXR cell adhesion molecule 2
IDA
RGD
PMID:17054395
RGD:1599126
NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094
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Elane
elastase, neutrophil expressed
ISO
protein:increased expression:plasma:
RGD
PMID:19049643
RGD:10450550
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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Il1b
interleukin 1 beta
disease_progression
ISO
mRNA:decreased expression:multiple (mouse)
RGD
PMID:19075243
RGD:40902812
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Rnasel
ribonuclease L
severity
ISO
RGD
PMID:19075243
RGD:40902812
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
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Tnf
tumor necrosis factor
disease_progression
ISO
protein:decreased expression:multiple (mouse)
RGD
PMID:19075243
RGD:40902812
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:5108595 PMID:5109917 PMID:5536438
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10888991
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Ager
advanced glycosylation end product-specific receptor
ISO
DNA:SNP:promoter:-374T>A (human)
RGD
PMID:22114731
RGD:8695981
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Ccl19
C-C motif chemokine ligand 19
ISO
associated with Neutropenia;mRNA:increased expression:lung
RGD
PMID:19783686
RGD:5130908
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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Ccr7
C-C motif chemokine receptor 7
ISO
associated with Neutropenia
RGD
PMID:19783686
RGD:5130908
NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
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Cd209d
CD209d molecule
ISO
RGD
PMID:21381282
RGD:5131183
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Cftr
CF transmembrane conductance regulator
severity
ISO
RGD
PMID:22135344
RGD:35673332
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Clec1a
C-type lectin domain family 1, member A
susceptibility
ISO
ClinVar Annotator: match by term: Aspergillosis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:29489751
NCBI chr 4:162,875,360...162,902,571
Ensembl chr 4:162,877,346...162,901,247
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Clec7a
C-type lectin domain containing 7A
ISO
ClinVar Annotator: match by term: Aspergillosis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868
NCBI chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897
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Crp
C-reactive protein
treatment
ISO
RGD
PMID:20879853
RGD:9495929
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Il15
interleukin 15
ISO
DNA:polymorphism (human)
RGD
PMID:16893395
RGD:4981337
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Mbl1
mannose binding lectin 1
susceptibility
ISO
RGD
PMID:20064561
RGD:8694071
NCBI chr16:17,029,146...17,035,187
Ensembl chr16:17,029,118...17,035,174
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Mbl2
mannose binding lectin 2
susceptibility
ISO
RGD
PMID:20064561
RGD:8694071
NCBI chr 1:228,016,439...228,024,736
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S100b
S100 calcium binding protein B
ISO
DNA:SNP: :427C>T (human)
RGD
PMID:22114731
RGD:8695981
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Tlr1
toll-like receptor 1
susceptibility
ISO
DNA:SNPs: :p.R80T, p.N248S (human)
RGD
PMID:16461792
RGD:4889535
NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
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Tlr2
toll-like receptor 2
ISO
mRNA:increased expression:lung
RGD
PMID:19781388
RGD:4145322
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr6
toll-like receptor 6
susceptibility
ISO
DNA:SNP: :p.S249P (human)
RGD
PMID:16461792
RGD:4889535
NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
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Ace
angiotensin I converting enzyme
ISO
associated with Cerebrovascular Accident
RGD
PMID:14990394
RGD:4140926
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Cxcl1
C-X-C motif chemokine ligand 1
IEP
RGD
PMID:19515386
RGD:4891456
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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Cxcl2
C-X-C motif chemokine ligand 2
IEP
RGD
PMID:19515386
RGD:4891456
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Edn1
endothelin 1
IEP
protein:increased secretion:plasma (rat)
RGD
PMID:19262391
RGD:4145069
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Il1a
interleukin 1 alpha
IEP
protein:increased expression:Bronchoalveolar Lavage Fluid
RGD
PMID:18042282
RGD:4142854
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15607125
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Tnf
tumor necrosis factor
IEP
protein:increased expression:Bronchoalveolar Lavage Fluid
RGD
PMID:18042282
RGD:4142854
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic | ClinVar Annotator: match by term: RELA-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28600438 PMID:29758562 PMID:32969189 PMID:35412596 PMID:36926348 More...
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:serum (human)
RGD
PMID:25539588
RGD:11541121
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Ccl2
C-C motif chemokine ligand 2
ISO
associated with Febrile Neutropenia;protein:increased expression:serum (human)
RGD
PMID:22584776
RGD:11528568
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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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 chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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Cfh
complement factor H
ISO
associated with Meningococcal Infections;
RGD
PMID:22104107
RGD:7364945
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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Cish
cytokine inducible SH2-containing protein
susceptibility
ISO
ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:20484391
NCBI chr 8:107,972,306...107,977,254
Ensembl chr 8:107,972,306...107,977,250
G
Cpb2
carboxypeptidase B2
IEP
protein:decreased activity:plasma
RGD
PMID:17911187
RGD:2313646
NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
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Crp
C-reactive protein
ISO
protein:increased expression:serum:
RGD
PMID:18443549
RGD:9491402
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Csf2
colony stimulating factor 2
treatment
ISO
RGD
PMID:2192004
RGD:10449532
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Fcgr2a
Fc gamma receptor 2A
ISO
associated with Pneumonia;DNA:SNP: :p.H131R (rs1801274) (human)
RGD
PMID:21317643
RGD:5147986
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
severity
ISO
RGD
PMID:11565076
RGD:5508478
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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Icam1
intercellular adhesion molecule 1
ISO
mRNA:increased expression:lung,thymus,spleen:
RGD
PMID:24891762
RGD:11354979
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il17a
interleukin 17A
ISO
associated with Respiratory Distress Syndrome, Adult; protein:increased expression:serum
RGD
PMID:21062445
RGD:5128683
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il27
interleukin 27
ISO
protein:increased expression:blood serum (human)
RGD
PMID:26514771
RGD:126790515
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Itih4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
protein:increased expression:liver, serum
RGD
PMID:33348064
RGD:40907057
NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708
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Mapkapk3
MAPK activated protein kinase 3
ISO
ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2
ClinVar
PMID:20484391
NCBI chr 8:107,929,754...107,963,638
Ensembl chr 8:107,929,762...107,963,568
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Mbl2
mannose binding lectin 2
treatment
ISO
associated with Multiple Myeloma:DNA:polymorphism:exon:
RGD
PMID:16953214
RGD:11530047
NCBI chr 1:228,016,439...228,024,736
G
Nod2
nucleotide-binding oligomerization domain containing 2
severity
ISO
associated with Staphylococcal Infections;
RGD
PMID:24086711
RGD:13204726
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1430592
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Plaur
plasminogen activator, urokinase receptor
severity
ISO
RGD
PMID:21332843
RGD:6483799
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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Serpinc1
serpin family C member 1
treatment
ISO
RGD
PMID:2679067
RGD:11035251
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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Sod2
superoxide dismutase 2
ISO
mRNA:increased expression:liver:
RGD
PMID:24253037
RGD:26923958
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Tirap
TIR domain containing adaptor protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bacteremia, susceptibility to, 1
CTD ClinVar OMIM
PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868
NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432
G
Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:polymorphisms:cds:p.D299G, T399I (human)
RGD
PMID:18180796
RGD:4144194
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Muc1
mucin 1, cell surface associated
ISO
RGD
PMID:10359313
RGD:7349379
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
G
Tlr2
toll-like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23661603
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Jak2
Janus kinase 2
ISO
protein:increased expression:stomach (human)
RGD
PMID:24718681
RGD:126928128
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Mir146a
microRNA 146a
ISO
associated with Helicobacter Infections;miRNA:increased expression:mucosa of stomach (human)
RGD
PMID:30535468
RGD:126925144
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Mir375
microRNA 375
ISO
protein:decreased expression:stomach (human)
RGD
PMID:24718681
RGD:126928128
NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
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Trem1
triggering receptor expressed on myeloid cells 1
ISO
mRNA,protein:increased expression:gastric epithelium
RGD
PMID:18321350
RGD:126928123
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Casp3
caspase 3
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:16443785
RGD:2311430
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp8
caspase 8
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:16443785
RGD:2311430
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
G
Casp9
caspase 9
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:16443785
RGD:2311430
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
G
Crp
C-reactive protein
ISO
RGD
PMID:23937512
RGD:9495911
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Dock8
dedicator of cytokinesis 8
susceptibility
ISO
DNA:mutations: :
RGD
PMID:25724123
RGD:40886274
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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Il10
interleukin 10
ISO
associated with Otitis Media
RGD
PMID:22668804
RGD:7364828
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il2
interleukin 2
ISO
associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood
RGD
PMID:21574159
RGD:5147907
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism:exon:
RGD
PMID:24453114
RGD:11530056
NCBI chr 1:228,016,439...228,024,736
G
Nod2
nucleotide-binding oligomerization domain containing 2
ISO
associated with Virus Diseases
RGD
PMID:21669398
RGD:5508748
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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RT1-Bb
RT1 class II, locus Bb
onset
ISO
associated with Cystic Fibrosis;DNA:polymorphism (human)
RGD
PMID:16987934
RGD:5147635
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
onset
ISO
associated with Cystic Fibrosis;DNA:polymorphism (human)
RGD
PMID:16987934
RGD:5147635
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Sdc4
syndecan 4
IMP
RGD
PMID:15001228
RGD:2312325
NCBI chr 3:153,154,888...153,173,576
Ensembl chr 3:153,154,896...153,173,580
G
Tbce
tubulin folding cofactor E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12389028
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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Il1r1
interleukin 1 receptor type 1
ISO
associated with Serratia Infections;
RGD
PMID:23033384
RGD:8662876
NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
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Ly96
lymphocyte antigen 96
ISO
associated with Serratia Infections;
RGD
PMID:23033384
RGD:8662876
NCBI chr 5:2,582,233...2,612,357
Ensembl chr 5:2,582,254...2,612,386
G
Myd88
MYD88, innate immune signal transduction adaptor
ISO
associated with Staphylococcal Infections; associated with Serratia Infections;
RGD
PMID:16926427 PMID:23033384
RGD:8552819 , RGD:8662876
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
G
Tlr2
toll-like receptor 2
ISO
associated with Staphylococcal Infections; associated with Pneumococcal Infections;
RGD
PMID:16926427 PMID:23841825
RGD:8552819 , RGD:8552886
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr4
toll-like receptor 4
ISO
associated with Pneumococcal Infections; associated with Serratia Infections;
RGD
PMID:23841825 PMID:23033384
RGD:8552886 , RGD:8662876
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tlr5
toll-like receptor 5
ISO
associated with Serratia Infections;
RGD
PMID:23033384
RGD:8662876
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
G
Marco
macrophage receptor with collagenous structure
disease_progression
ISO
association with Cryptococcal neoformans infection.
RGD
PMID:28298522
RGD:41412191
NCBI chr13:31,616,278...31,648,521
Ensembl chr13:31,616,278...31,648,521
G
Ache
acetylcholinesterase
ISO
RGD
PMID:21303225
RGD:5688130
NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651
G
Bche
butyrylcholinesterase
ISO
protein:increased expression:blood
RGD
PMID:21303225
RGD:5688130
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
G
Bdnf
brain-derived neurotrophic factor
ISO IEP
mRNA, protein:increased expression:hippocampus mRNA:decreased expression:hippocampus,cerebral cortex:
RGD
PMID:16141791 PMID:22683802
RGD:5684920 , RGD:8655554
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Cd46
CD46 molecule
ISO
RGD
PMID:16948860
RGD:6483465
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Chi3l1
chitinase 3 like 1
severity
ISO
protein:increased secretion:cerebrospinal fluid (human)
RGD
PMID:11986266
RGD:4892662
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
G
Crp
C-reactive protein
ISO
protein:increased expression:serum:
RGD
PMID:6122844
RGD:9491388
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
G
Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:10430840
RGD:8547971
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Ngf
nerve growth factor
IEP
mRNA:decreased expression:hippocampus:
RGD
PMID:22683802
RGD:8655554
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
G
Ntrk2
neurotrophic receptor tyrosine kinase 2
ISO
mRNA, protein:increased expression:hippocampus
RGD
PMID:16141791
RGD:5684920
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
G
Parp1
poly (ADP-ribose) polymerase 1
susceptibility
ISO
DNA:snp:cds:p.V762A rs1136410 (human)
RGD
PMID:21651918
RGD:5683901
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
G
S100b
S100 calcium binding protein B
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:15105355
RGD:5508818
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
G
Trem1
triggering receptor expressed on myeloid cells 1
disease_progression
ISO
RGD
PMID:16786330
RGD:126928126
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
G
Abcc1
ATP binding cassette subfamily C member 1
ISO
RGD
PMID:11238654
RGD:5128828
NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
G
Ace2
angiotensin converting enzyme 2
ISO
associated with Pseudomonas Infections;mRNA, protein:altered expression, altered activity:lung (mouse)
RGD
PMID:31645418
RGD:40818279
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
G
Ager
advanced glycosylation end product-specific receptor
severity
ISO
RGD
PMID:21629785
RGD:6767559
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
G
C3
complement C3
ISO
RGD
PMID:16014897
RGD:5129508
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
G
C3ar1
complement C3a receptor 1
ISO
RGD
PMID:16461429
RGD:5129690
NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
G
C5
complement C5
ISO
RGD
PMID:17975174
RGD:5129707
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
G
Cat
catalase
IDA
protein:decreased expression:lung, plasma
RGD
PMID:19842849
RGD:5130748
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
G
Ccl19
C-C motif chemokine ligand 19
ISO
mRNA, protein:increased expression:lung
RGD
PMID:20176793
RGD:5130918
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
G
Ccl2
C-C motif chemokine ligand 2
ISO
RGD
PMID:20042590
RGD:4891443
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:20483921
RGD:5130905
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
G
Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:20042590
RGD:4891443
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
G
Ccr7
C-C motif chemokine receptor 7
ISO
RGD
PMID:20176793
RGD:5130918
NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
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Cd14
CD14 molecule
ISO
RGD
PMID:16210672
RGD:4144197
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
G
Cd40
CD40 molecule
ISO
RGD
PMID:20102413
RGD:5132268
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
G
Cd80
Cd80 molecule
ISO
RGD
PMID:20949109
RGD:4892562
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
G
Chuk
component of inhibitor of nuclear factor kappa B kinase complex
ISO
RGD
PMID:18643924
RGD:5133701
NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
G
Csf3
colony stimulating factor 3
disease_progression treatment
ISO
associated with Peritonitis;
RGD
PMID:21373266 PMID:12352049
RGD:5133733 , RGD:11039437
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
G
Csf3r
colony stimulating factor 3 receptor
disease_progression
ISO
RGD
PMID:17185469
RGD:5133739
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
G
Cxcl1
C-X-C motif chemokine ligand 1
ISO IEP
RGD
PMID:21723409 PMID:11052817
RGD:5135062 , RGD:5135234
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
G
Cxcl10
C-X-C motif chemokine ligand 10
severity
ISO
RGD
PMID:16299319 PMID:15618188
RGD:5135458 , RGD:5135459
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
G
Cxcl11
C-X-C motif chemokine ligand 11
ISO
RGD
PMID:15618188
RGD:5135459
NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271
G
Cxcl2
C-X-C motif chemokine ligand 2
severity
ISO IEP
RGD
PMID:19239431 PMID:11052817 PMID:21723409
RGD:5135065 , RGD:5135234 , RGD:5135062
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
G
Cxcl3
C-X-C motif chemokine ligand 3
IEP
RGD
PMID:11052817
RGD:5135234
NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
G
Cxcl6
C-X-C motif chemokine ligand 6
ISO
RGD
PMID:19846873
RGD:4145490
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:15618188
RGD:5135459
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
G
Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:15618188
RGD:5135459
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
G
Cyp2j4
cytochrome P450, family 2, subfamily j, polypeptide 4
IEP
protein:decreased expression:lung
RGD
PMID:14766666
RGD:1625385
NCBI chr 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794
G
Defb4
defensin beta 4
ISO
protein:increased expression:plasma
RGD
PMID:10213993
RGD:4892266
NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665
G
Defb5
defensin beta 5
ISO
protein:increased expression:plasma
RGD
PMID:10213993
RGD:4892266
NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467
G
F2
coagulation factor II, thrombin
IEP
protein:increased expression:lung
RGD
PMID:21897338
RGD:6893486
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
Fcgr2a
Fc gamma receptor 2A
ISO
RGD
PMID:17975174
RGD:5129707
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
G
Foxp3
forkhead box P3
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Gp1ba
glycoprotein Ib platelet subunit alpha
exacerbates
ISO
associated with Escherichia Coli Infections
RGD
PMID:27845343
RGD:42722624
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
G
Grk2
G protein-coupled receptor kinase 2
ISO
mRNA:decreased expression:polymorphonuclear leukocyte
RGD
PMID:24465168
RGD:126848796
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
G
Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:lung (mouse)
RGD
PMID:19846873
RGD:4145490
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Ifnar1
interferon alpha and beta receptor subunit 1
severity
ISO
RGD
PMID:19487810 PMID:19487810
RGD:5490274 , RGD:5490274
NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
G
Ifng
interferon gamma
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Il10
interleukin 10
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il15
interleukin 15
ISO
RGD
PMID:17911627
RGD:5000754
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
G
Il17a
interleukin 17A
severity
ISO
RGD
PMID:18802100 PMID:25398094
RGD:4889153 , RGD:38501102
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il18
interleukin 18
ISO
RGD
PMID:17664259
RGD:4889913
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il1b
interleukin 1 beta
severity treatment
ISO
associated with Agranulocytosis
RGD
PMID:18596024 PMID:25398094 PMID:7546648
RGD:4143205 , RGD:38501102 , RGD:10755357
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rl1
interleukin 1 receptor-like 1
treatment
ISO IEP
associated with Sepsis associated with Acinetobacter infectious disease
RGD
PMID:20959556 PMID:29508184
RGD:5144223 , RGD:40818077
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
G
Il1rn
interleukin 1 receptor antagonist
ISO
RGD
PMID:18596024 PMID:18322242
RGD:4143205 , RGD:4143206
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il22
interleukin 22
ISO
RGD
PMID:21178015
RGD:5147404
NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186
G
Il6
interleukin 6
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Irak3
interleukin-1 receptor-associated kinase 3
ISO
RGD
PMID:28120642 PMID:20439918
RGD:34888234 , RGD:36049799
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
G
Irf1
interferon regulatory factor 1
ISO
RGD
PMID:11854220
RGD:5128725
NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
G
Irf3
interferon regulatory factor 3
ISO
RGD
PMID:20720199
RGD:4891951
NCBI chr 1:95,479,966...95,484,926
Ensembl chr 1:95,479,821...95,484,935
G
Itgb3
integrin subunit beta 3
IEP
protein:increased expression:lung, neutrophil
RGD
PMID:15114484
RGD:4993468
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
G
Lep
leptin
ISO
RGD
PMID:11937559
RGD:5128871
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Mapk8
mitogen-activated protein kinase 8
severity
ISO
associated with Escherichia Coli Infections
RGD
PMID:22514650
RGD:150340681
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
G
Mbl2
mannose binding lectin 2
ISO
Legionella Pneumonia; DNA:mutations:5' utr, exon:multiple (human)
RGD
PMID:18641104
RGD:4889477
NCBI chr 1:228,016,439...228,024,736
G
Mc1r
melanocortin 1 receptor
ISO
RGD
PMID:18304533
RGD:5687324
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:bronchoalveolar lavage fluid
RGD
PMID:17202364 PMID:19535150
RGD:5130727 , RGD:5129533
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Mpo
myeloperoxidase
ISO
protein:increased activity:bronchoalveolar lavage Fluid:
RGD
PMID:11269653
RGD:5130992
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
G
Nod1
nucleotide-binding oligomerization domain containing 1
ISO
RGD
PMID:19360122
RGD:5131449
NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404
G
Nod2
nucleotide-binding oligomerization domain containing 2
ISO
RGD
PMID:19360122
RGD:5131449
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
G
Pdpn
podoplanin
IEP
protein:increased expression:lung
RGD
PMID:7864138
RGD:2292375
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
G
Pecam1
platelet and endothelial cell adhesion molecule 1
IEP
protein:decreased expression:lung
RGD
PMID:12524254
RGD:724645
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
G
Pgf
placental growth factor
ISO
protein:increased expression:plasma
RGD
PMID:16702604
RGD:6483601
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
G
Pten
phosphatase and tensin homolog
ameliorates
ISO
myeloid knockout
RGD
PMID:21527775
RGD:127285594
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
Ripk3
receptor-interacting serine-threonine kinase 3
ameliorates
ISO
RGD
PMID:28387756
RGD:127229944
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
G
Rorc
RAR-related orphan receptor C
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr 2:182,009,707...182,034,910
Ensembl chr 2:182,009,286...182,034,907
G
Serpine1
serpin family E member 1
severity
ISO
RGD
PMID:17032919
RGD:4144840
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
G
Sftpa1
surfactant protein A1
IEP
protein:increased expression:lung
RGD
PMID:12169586
RGD:4143464
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
G
Sftpb
surfactant protein B
ISO IEP
associated with Cystic Fibrosis;protein:increased expression:lung
RGD
PMID:15271694 PMID:12169586
RGD:4143403 , RGD:4143464
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
G
Sftpc
surfactant protein C
ISO IEP
RGD
PMID:18566429 PMID:12169586
RGD:4144114 , RGD:4143464
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
G
Sftpd
surfactant protein D
ISO IEP
associated with Cystic Fibrosis;protein:decreased expression:lung protein:increased expression:lung
RGD
PMID:15271694 PMID:12169586
RGD:4143403 , RGD:4143464
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
G
Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:18192501
RGD:6892945
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
G
Tgfb1
transforming growth factor, beta 1
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Tlr2
toll-like receptor 2
ISO IDA
RGD
PMID:18768871 PMID:19844782
RGD:4145337 , RGD:4889533
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr4
toll-like receptor 4
ISO
RGD
PMID:20650991 PMID:16210672
RGD:4144172 , RGD:4144197
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tlr5
toll-like receptor 5
ISO
RGD
PMID:19801452
RGD:5129503
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
G
Tlr6
toll-like receptor 6
IDA
RGD
PMID:19844782
RGD:4889533
NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
G
Tlr9
toll-like receptor 9
ISO
RGD
PMID:20360853
RGD:5130719
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
G
Tnf
tumor necrosis factor
disease_progression treatment severity
ISO
associated with Agranulocytosis
RGD
PMID:10650487 PMID:7546648 PMID:9310939 PMID:12958055
RGD:4143476 , RGD:10755357 , RGD:10450564 , RGD:10449451
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tnfrsf1a
TNF receptor superfamily member 1A
ISO
protein:increased expression:serum (mouse)
RGD
PMID:19842848
RGD:5131429
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
G
Tnfrsf1b
TNF receptor superfamily member 1B
ISO
protein:increased expression:serum (mouse)
RGD
PMID:19842848
RGD:5131429
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
G
Trem1
triggering receptor expressed on myeloid cells 1
severity ameliorates
ISO IDA
RGD
PMID:24465168 PMID:16960786 PMID:22996209
RGD:126848796 , RGD:127229902 , RGD:126925987
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
G
Zc3h12a
zinc finger CCCH type containing 12A
ISO
associated with Pseudomonas Infections
RGD
PMID:29695841
RGD:39938967
NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351
G
Trem1
triggering receptor expressed on myeloid cells 1
treatment ameliorates exacerbates
ISO IDA
associated with bacterial pneumonia
RGD
PMID:21507332 PMID:16960786 PMID:17230441
RGD:126925982 , RGD:127229902 , RGD:126928125
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
G
Mbl2
mannose binding lectin 2
ISO
DNA:SNP:cds:
RGD
PMID:17470593
RGD:8693700
NCBI chr 1:228,016,439...228,024,736
G
Clec4m
C-type lectin domain family 4 member M
ISO
associated with Escherichia Coli Infections
RGD
PMID:31998663
RGD:41410804
NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
G
Cxcl2
C-X-C motif chemokine ligand 2
ISO
associated with Influenza
RGD
PMID:20065113
RGD:5134984
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
G
Aldoc
aldolase, fructose-bisphosphate C
IEP
mRNA, protein:decreased expression:cerebellum, Purkinje cell
RGD
PMID:17182680
RGD:2301132
NCBI chr10:63,217,477...63,221,066
Ensembl chr10:63,217,451...63,221,066
G
Atf4
activating transcription factor 4
IEP
protein:increased expression:cerebellum
RGD
PMID:16912310
RGD:32733622
NCBI chr 7:111,804,135...111,806,457
Ensembl chr 7:111,804,183...111,806,446
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Atf6
activating transcription factor 6
IEP
protein:increased expression:cerebellum, hippocampus
RGD
PMID:16912310
RGD:32733622
NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
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Bdnf
brain-derived neurotrophic factor
IEP
mRNA:decreased expression:hippocampus
RGD
PMID:11175319
RGD:2325644
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Cd44
CD44 molecule
IEP
RGD
PMID:16612977
RGD:2289373
NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
RGD
PMID:12053272
RGD:4891998
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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Cx3cr1
C-X3-C motif chemokine receptor 1
IEP
mRNA:increased expression:brain
RGD
PMID:12053272
RGD:4891998
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Ddit3
DNA-damage inducible transcript 3
IEP
mRNA,protein:increased expression:cerebellum, hippocampus
RGD
PMID:16912310
RGD:32733622
NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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Eif2a
eukaryotic translation initiation factor 2A
IEP
protein:increased expression:cerebellum,hippocampus
RGD
PMID:16912310
RGD:32733622
NCBI chr 2:142,761,303...142,794,767
Ensembl chr 2:142,761,416...142,795,068
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Gja1
gap junction protein, alpha 1
IEP
RGD
PMID:18538309
RGD:7364785
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Gjb6
gap junction protein, beta 6
IEP
RGD
PMID:18538309
RGD:7364785
NCBI chr15:31,284,561...31,294,552
Ensembl chr15:31,284,419...31,294,582
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Igf1
insulin-like growth factor 1
IEP
mRNA:increased expression:hippocampus
RGD
PMID:11175319
RGD:2325644
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Il16
interleukin 16
IEP
protein:increased expression:brain
RGD
PMID:14698845
RGD:1354526
NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
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Mif
macrophage migration inhibitory factor
IEP
protein:increased expression:astrocyte
RGD
PMID:11870869
RGD:1642006
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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Mt3
metallothionein 3
IEP
RGD
PMID:16612977
RGD:2289373
NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
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Ngf
nerve growth factor
IEP
mRNA:decreased expression:hippocampus
RGD
PMID:11175319
RGD:2325644
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Ntf3
neurotrophin 3
IEP
mRNA:decreased expression:hippocampus
RGD
PMID:11175319
RGD:2325644
NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
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Ntrk2
neurotrophic receptor tyrosine kinase 2
IEP
mRNA:decreased expression:cerebellum,hippocampus
RGD
PMID:11175319
RGD:2325644
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
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Ntrk3
neurotrophic receptor tyrosine kinase 3
IEP
mRNA:decreased expression:cerebellum,hippocampus
RGD
PMID:11175319
RGD:2325644
NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286
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Parg
poly (ADP-ribose) glycohydrolase
IEP
mRNA:decreased expression:hippocampus
RGD
PMID:18057239
RGD:2316738
NCBI chr16:7,436,429...7,544,276
Ensembl chr16:7,436,476...7,544,273
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Parp1
poly (ADP-ribose) polymerase 1
IEP
mRNA,protein:increased expression,increased activity:neuron, glial cell:
RGD
PMID:18057239
RGD:2316738
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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S100b
S100 calcium binding protein B
IEP
protein:decreased expression:cerebellum, cerebral cortex
RGD
PMID:17376896
RGD:5508841
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Slc6a4
solute carrier family 6 member 4
IEP
protein:increased expression:brain (rat)
RGD
PMID:12106671
RGD:38549588
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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Xbp1
X-box binding protein 1
IEP
mRNA,protein:altered expression:cerebellum,hippocampus
RGD
PMID:16912310
RGD:32733622
NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
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C3
complement C3
ISO
protein:increased expression:serum
RGD
PMID:3361150
RGD:11041575
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cfb
complement factor B
ISO
protein:increased expression:serum
RGD
PMID:3361150
RGD:11041575
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:14507644
RGD:5135450
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:14507644
RGD:5135450
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:16923792
RGD:39457937
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Il4
interleukin 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17387165
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Birc2
baculoviral IAP repeat-containing 2
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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Birc3
baculoviral IAP repeat-containing 3
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:16239543
RGD:8552881
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Cd163
CD163 molecule
treatment
ISO
RGD
PMID:32069255
RGD:149735531
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Ifng
interferon gamma
treatment
ISO
RGD
PMID:27916101
RGD:14974260
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Npc1
NPC intracellular cholesterol transporter 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12183525
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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Pde4a
phosphodiesterase 4A
IEP
mRNA:decreased expression:spleen
RGD
PMID:17397885
RGD:2302429
NCBI chr 8:19,690,816...19,753,538
Ensembl chr 8:19,703,290...19,751,961
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Prdx5
peroxiredoxin 5
ISO
mRNA:increased expression:spleen (mouse)
RGD
PMID:31196623
RGD:41404681
NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29203515 PMID:30894428
RGD:39128199 , RGD:39128234
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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Slc11a1
solute carrier family 11 member 1
susceptibility
ISO
ClinVar Annotator: match by term: Buruli ulcer, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:16395392
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:27322540 PMID:27385977
RGD:39457954 , RGD:39458040
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
treatment
ISO
RGD
PMID:23180818
RGD:38599193
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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Slc11a1
solute carrier family 11 member 1
ISO
RGD
PMID:18656410
RGD:5684976
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Cd1d1
CD1d1 molecule
ameliorates
ISO
associated with endotoxemia
RGD
PMID:32154791
RGD:127345119
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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Ephb2
Eph receptor B2
exacerbates
ISO
RGD
PMID:33685996
RGD:127229905
NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
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Aire
autoimmune regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12050215
NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060
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Chrm2
cholinergic receptor, muscarinic 2
ISO
RGD
PMID:19958780
RGD:5509581
NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103
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Il33
interleukin 33
treatment
ISO
RGD
PMID:22661085
RGD:40400896
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Ltf
lactotransferrin
ISO
RGD
PMID:17922408
RGD:7243948
NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
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Mapk8
mitogen-activated protein kinase 8
ameliorates
ISO
RGD
PMID:28112734
RGD:150340684
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Ncr1
natural cytotoxicity triggering receptor 1
disease_progression
ISO
RGD
PMID:27736647
RGD:40818241
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
ISO
RGD
PMID:30944411
RGD:127229913
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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Clec7a
C-type lectin domain containing 7A
ISO
ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897
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Il17f
interleukin 17F
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 6 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17576681 PMID:21350122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30290665 PMID:32185379 PMID:35753512 More...
NCBI chr 9:23,190,094...23,201,482
Ensembl chr 9:23,190,100...23,201,482
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Traf3ip2
Traf3 interacting protein 2
susceptibility
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 8 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20953186 PMID:20953188 PMID:22513239 PMID:22581863 PMID:24033266 PMID:24120361 PMID:25741868 PMID:28492532 More...
NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
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Brk1
BRICK1 subunit of SCAR/WAVE actin nucleating complex
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856
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Cidec
cell death-inducing DFFA-like effector c
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173
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Creld1
cysteine-rich with EGF-like domains 1
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499
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Emc3
ER membrane protein complex subunit 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,663,065...146,678,976
Ensembl chr 4:146,663,067...146,679,029
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Fancd2
FA complementation group D2
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
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Fancd2os
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
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Il17rc
interleukin 17 receptor C
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Candidiasis, familial, 9 | ClinVar Annotator: match by term: IL17RC-related condition
OMIM CTD ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25918342 PMID:28492532 More...
NCBI chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442
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Il17re
interleukin 17 receptor E
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,604,547...146,618,206
Ensembl chr 4:146,605,526...146,618,206
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Jagn1
jagunal homolog 1
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288
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Prrt3
proline-rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,641,173...146,650,487
Ensembl chr 4:146,641,173...146,650,317
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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Sod2
superoxide dismutase 2
ISO
RGD
PMID:15337840
RGD:1581246
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Gria1
glutamate ionotropic receptor AMPA type subunit 1
IEP
mRNA:increased expression:hippocampus (rat)
RGD
PMID:19660546
RGD:2325963
NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283
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Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
IEP
mRNA:increased expression:hippocampus (rat)
RGD
PMID:19660546
RGD:2325963
NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637
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Plat
plasminogen activator, tissue type
IEP
protein:increased expression:cerebellum (rat)
RGD
PMID:19279110
RGD:11537478
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Prnp
prion protein
ISO
ClinVar Annotator: match by term: Amyloidosis cerebral with spongiform encephalopathy
ClinVar
PMID:1353341 PMID:1672296 PMID:1674033 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 PMID:2180366 PMID:2190844 PMID:2378641 PMID:2564168 PMID:2572450 PMID:2783132 PMID:7902693 PMID:7902971 PMID:7908444 PMID:8137139 PMID:8461023 PMID:8698234 PMID:9643750 PMID:9653185 PMID:9748018 PMID:9751723 PMID:9789072 PMID:10079068 PMID:10437852 PMID:10526198 PMID:10581230 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11756597 PMID:11840201 PMID:11967261 PMID:12172394 PMID:12451207 PMID:12601712 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14761942 PMID:14872044 PMID:14970845 PMID:15277640 PMID:15539564 PMID:15967879 PMID:15987701 PMID:16217673 PMID:16315279 PMID:16369046 PMID:16380907 PMID:16391566 PMID:16565881 PMID:16969862 PMID:17029785 PMID:17494694 PMID:17666888 PMID:18955686 PMID:19422533 PMID:19422537 PMID:19696976 PMID:19703264 PMID:19923577 PMID:20301407 PMID:20583301 PMID:20592908 PMID:21269331 PMID:21839748 PMID:21909425 PMID:21983261 PMID:22097954 PMID:22108575 PMID:22561193 PMID:22947063 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23320809 PMID:23527023 PMID:23555862 PMID:23668481 PMID:24583440 PMID:24838726 PMID:25482600 PMID:25741868 PMID:25818675 PMID:26268049 PMID:26578040 PMID:26791950 PMID:27341347 PMID:28492532 PMID:29382530 PMID:29887139 More...
NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
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Ace2
angiotensin converting enzyme 2
susceptibility
ISO
DNA:SNP:intron 1: C>T
RGD
PMID:20117248
RGD:40818420
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Aqp4
aquaporin 4
disease_progression
ISO
protein:increased expression:astrocyte:
RGD
PMID:21904632
RGD:8698661
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Cast
calpastatin
ISO
protein:increased express:brain
RGD
PMID:16236382
RGD:5509817
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
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Cd36
CD36 molecule
ISO
RGD
PMID:17367535
RGD:6893527
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Clec12a
C-type lectin domain family 12, member A
ameliorates
ISO
RGD
PMID:31269448
RGD:41412201
NCBI chr 4:162,798,125...162,816,757
Ensembl chr 4:162,798,125...162,816,753
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Il1rl1
interleukin 1 receptor-like 1
treatment
ISO
RGD
PMID:25682948
RGD:40400741
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il33
interleukin 33
treatment
ISO
protein:increased expression:brain
RGD
PMID:25659095 PMID:25682948
RGD:39938955 , RGD:40400741
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Jak3
Janus kinase 3
ISO
RGD
PMID:22363534
RGD:11531103
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Lta
lymphotoxin alpha
ISO
RGD
PMID:12021316
RGD:10449455
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Nrg1
neuregulin 1
treatment
ISO
mRNA, protein:increased expression:cerebral cortex (mouse) human protein in a mouse model
RGD
PMID:29636063 PMID:24433482
RGD:39456084 , RGD:39456102
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
RGD
PMID:25775137
RGD:38599200
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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Prkaa2
protein kinase AMP-activated catalytic subunit alpha 2
ISO
mRNA:decreased expression:brain (mouse)
RGD
PMID:29107705
RGD:39456137
NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
RGD
PMID:12228317
RGD:5131158
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Nfkb1
nuclear factor kappa B subunit 1
severity
ISO
RGD
PMID:20156658
RGD:40902838
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:16118671
RGD:8549760
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd40
CD40 molecule
ISO
RGD
PMID:20102413
RGD:5132268
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Foxp3
forkhead box P3
treatment
ISO
RGD
PMID:30832593
RGD:38455984
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Icam1
intercellular adhesion molecule 1
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:19728926
RGD:4145507
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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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 chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19203382
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il13
interleukin 13
ISO
RGD
PMID:21573182
RGD:5684365
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il17a
interleukin 17A
ISO
associated with Bronchial Hyprractivity; mRNA:increased expression:lung
RGD
PMID:20228193 PMID:19812198
RGD:4888528 , RGD:4889101
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Mir21
microRNA 21
ISO
associated with asthma;RNA:increased expression:lung
RGD
PMID:27448447
RGD:41404696
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Tgfb1
transforming growth factor, beta 1
treatment
ISO
RGD
PMID:30832593
RGD:38455984
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19203382
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Cd274
CD274 molecule
ISO
mRNA:increased expression:lung
RGD
PMID:26378990
RGD:41412180
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Pdcd1
programmed cell death 1
ISO
mRNA:increased expression:lung
RGD
PMID:26378990
RGD:41412180
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
severity
ISO
RGD
PMID:29893841
RGD:40890270
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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Cd1d1
CD1d1 molecule
ISO
RGD
PMID:23999314
RGD:127345116
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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Plac8
placenta associated 8
severity exacerbates
ISO
RGD
PMID:22238459 PMID:22238459
RGD:40925930 , RGD:40925930
NCBI chr14:9,052,601...9,074,264
Ensembl chr14:9,063,048...9,074,264
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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 chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Hdc
histidine decarboxylase
ISO
RGD
PMID:14556983
RGD:5143922
NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341
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Lcn2
lipocalin 2
exacerbates
ISO
RGD
PMID:23317919
RGD:126781720
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Mmp14
matrix metallopeptidase 14
IEP
RGD
PMID:12526080
RGD:1582580
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:12526080
RGD:1582580
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Duox2
dual oxidase 2
treatment
ISO
RGD
PMID:29133347
RGD:40925924
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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Mir155
microRNA 155
ISO
miRNA:increased expression:duodenum
RGD
PMID:28319200
RGD:25314323
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Ifng
interferon gamma
treatment
ISO
RGD
PMID:29481557
RGD:14975102
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il17ra
interleukin 17 receptor A
ISO
ClinVar Annotator: match by term: Familial Candidiasis, Recessive
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
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Mapk8
mitogen-activated protein kinase 8
ISO
associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human)
RGD
PMID:31784499
RGD:150340677
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis
CTD ClinVar
PMID:21714643 PMID:21727188 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24343863 PMID:25741868 PMID:26255980 PMID:26494717 PMID:26604104 PMID:28161409 PMID:28427548 PMID:28492532 PMID:28815025 More...
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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Acyp2
acylphosphatase 2
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr14:104,201,894...104,371,415
Ensembl chr14:104,201,895...104,371,386
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Il1r1
interleukin 1 receptor type 1
ISO
ClinVar Annotator: match by term: Chronic multifocal osteomyelitis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
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Mlkl
mixed lineage kinase domain like pseudokinase
ISO
ClinVar Annotator: match by term: Chronic multifocal osteomyelitis
ClinVar
NCBI chr19:39,277,526...39,304,555
Ensembl chr19:39,276,785...39,304,502
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Mynn
myoneurin
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr 2:112,779,654...112,797,188
Ensembl chr 2:112,779,657...112,796,397
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Pstpip2
proline-serine-threonine phosphatase-interacting protein 2
ISS
OMIM:259680
MouseDO
NCBI chr18:71,310,387...71,396,752
Ensembl chr18:71,311,020...71,395,709
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Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
PMID:16890917 PMID:28492532
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Zbtb46
zinc finger and BTB domain containing 46
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782
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Il23a
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:26455347
RGD:11097134
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Il33
interleukin 33
treatment severity
ISO
RGD
PMID:32156806 PMID:32156806
RGD:40400894 , RGD:40400894
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Il27
interleukin 27
ISO
associated with diarrhea;protein:increased expression:blood��serum, feces (human)
RGD
PMID:29140433
RGD:126790495
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Marco
macrophage receptor with collagenous structure
exacerbates
ISO
RGD
PMID:20810988
RGD:41412193
NCBI chr13:31,616,278...31,648,521
Ensembl chr13:31,616,278...31,648,521
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Mbl2
mannose binding lectin 2
ISO
protein:decreased secretion:serum (human)
RGD
PMID:19083122
RGD:4889458
NCBI chr 1:228,016,439...228,024,736
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms: :HLA-DQA1*01:03, HLA-DQA1*03:02 (human)
RGD
PMID:26856406
RGD:126928144
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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Ccl2
C-C motif chemokine ligand 2
ISO
ClinVar Annotator: match by term: Coronary artery disease, development of, in HIV
ClinVar
PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Aldh1a1
aldehyde dehydrogenase 1 family, member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr 1:218,000,470...218,152,962
Ensembl chr 1:218,042,127...218,152,961
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Atf6
activating transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
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Cped1
cadherin-like and PC-esterase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr 4:50,516,712...50,789,651
Ensembl chr 4:50,516,819...50,788,674
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Ctss
cathepsin S
ISO
RGD
PMID:12368333
RGD:5686913
NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483
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Galc
galactosylceramidase
ISO
mRNA:decreased expression:frontal cortex (human)
RGD
PMID:30009661
RGD:38599170
NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830
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Hist2h4a
histone cluster 2 H4 family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
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Il1a
interleukin 1 alpha
ISO
mRNA:increased expression:brain:
RGD
PMID:8790403
RGD:10045948
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Klrc2
killer cell lectin like receptor C2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr 4:163,122,700...163,133,843
Ensembl chr 4:163,122,704...163,133,843
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Krt73
keratin 73
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr 7:132,927,812...132,936,323
Ensembl chr 7:132,928,256...132,936,280
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LOC120094448
small nucleolar RNA SNORA16B/SNORA16A family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr 8:2,368,882...2,369,014
Ensembl chr 8:2,368,882...2,369,014
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Mapt
microtubule-associated protein tau
ISO
protein:increased expression:CSF (human) protein:increased expression:CSF, serum (human)
RGD
PMID:31541342 PMID:29368621 PMID:27929120 PMID:30309804
RGD:127284880 , RGD:127284889 , RGD:127284887 , RGD:127284881
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
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Msl3l2
male-specific lethal 3-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr20:35,468,877...35,477,025
Ensembl chr20:35,468,888...35,477,757
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Nefh
neurofilament heavy chain
ISO
protein:increased expression:CSF (human)
RGD
PMID:27929120
RGD:127284887
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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Nefl
neurofilament light chain
ISO
protein:increased expression:CSF (human) protein:increased expression:CSF, serum (human)
RGD
PMID:31541342 PMID:29368621 PMID:27929120 PMID:30309804
RGD:127284880 , RGD:127284889 , RGD:127284887 , RGD:127284881
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Prnp
prion protein
ISO ISS
DNA:mutation ClinVar Annotator: match by term: Creutzfeldt-Jakob Disease, Familial | ClinVar Annotator: match by term: Protection against Creutzfeldt-Jakob disease OMIM:123400 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:1351274 PMID:1353341 PMID:1404799 PMID:1469441 PMID:1672296 PMID:1674033 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1684755 PMID:1684758 PMID:1798423 PMID:1971924 PMID:1975028 PMID:2180366 PMID:2190844 PMID:2253724 PMID:2378641 PMID:2458274 PMID:2564168 PMID:2572450 PMID:2783132 PMID:7902693 PMID:7902971 PMID:7908444 PMID:7916462 PMID:7936296 PMID:7999318 PMID:8105682 PMID:8137139 PMID:8461023 PMID:8618678 PMID:8698234 PMID:8909447 PMID:9279329 PMID:9482303 PMID:9643750 PMID:9653185 PMID:9748018 PMID:9751723 PMID:9789072 PMID:9813003 PMID:10079068 PMID:10090891 PMID:10360778 PMID:10437852 PMID:10526198 PMID:10581230 PMID:10665501 PMID:10889050 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11756597 PMID:11839833 PMID:11840201 PMID:11967261 PMID:12172394 PMID:12451207 PMID:12572668 PMID:12601712 PMID:12815603 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15366237 PMID:15539564 PMID:15557533 PMID:15739100 PMID:15753435 PMID:15776279 PMID:15967879 PMID:15987701 PMID:16187142 PMID:16217673 PMID:16314483 PMID:16315279 PMID:16369046 PMID:16380907 PMID:16391566 PMID:16533975 PMID:16565881 PMID:16969862 PMID:17029785 PMID:17494694 PMID:17666888 PMID:18955686 PMID:19422533 PMID:19422537 PMID:19696976 PMID:19703264 PMID:19923577 PMID:20139714 PMID:20301407 PMID:20514992 PMID:20541558 PMID:20583301 PMID:20592908 PMID:20593190 PMID:20697057 PMID:21269331 PMID:21298055 PMID:21552571 PMID:21791975 PMID:21839748 PMID:21909425 PMID:21983261 PMID:22072968 PMID:22097954 PMID:22108575 PMID:22318125 PMID:22488860 PMID:22561193 PMID:22584955 PMID:22947063 PMID:22965875 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23296137 PMID:23320809 PMID:23349890 PMID:23527023 PMID:23555862 PMID:23668481 PMID:23723004 PMID:24583440 PMID:24838726 PMID:25064618 PMID:25279981 PMID:25450391 PMID:25482600 PMID:25522698 PMID:25741868 PMID:25818675 PMID:25959220 PMID:26268049 PMID:26488179 PMID:26578040 PMID:26791950 PMID:27341347 PMID:27803826 PMID:28492532 PMID:29382530 PMID:29887139 PMID:1684755 More...
RGD:1599946
NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
mRNA, protein:increased expression:macrophage, endothelial cell
RGD
PMID:12663931
RGD:5688237
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
mRNA, protein:increased expression:neuron
RGD
PMID:12663931
RGD:5688237
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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S100b
S100 calcium binding protein B
ISO
protein:increased expression:serum (human)
RGD
PMID:20855493 PMID:27929120
RGD:5508781 , RGD:127284887
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Serpina3m
serpin family A member 3M
disease_progression
ISO
mRNA,protein:increased expression:frontal cortex:
RGD
PMID:29142239 PMID:29142239
RGD:36947868 , RGD:36947868
NCBI chr 6:123,064,796...123,072,087
Ensembl chr 6:123,064,796...123,072,066
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Serpina3n
serine (or cysteine) peptidase inhibitor, clade A, member 3N
ISO
mRNA,protein:increased expression:frontal cortex:
RGD
PMID:29142239
RGD:36947868
NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433
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Snca
synuclein alpha
ISO
protein:increased expression:cerebral spinal fluid:
RGD
PMID:18625222
RGD:13506723
NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
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Srd5a3
steroid 5 alpha-reductase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr14:32,046,408...32,060,796
Ensembl chr14:32,046,408...32,060,747
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Stx1a
syntaxin 1A
ISO
RGD
PMID:10842016
RGD:1581434
NCBI chr12:21,641,971...21,670,022
Ensembl chr12:21,641,969...21,669,930
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Tubb2a
tubulin, beta 2A class IIa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr17:30,796,842...30,800,713
Ensembl chr17:30,747,503...30,800,714
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Ywhag
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ISO
protein:increased expression:CSF (human)
RGD
PMID:31541342 PMID:27929120 PMID:30309804
RGD:127284880 , RGD:127284887 , RGD:127284881
NCBI chr12:20,744,500...20,772,828
Ensembl chr12:20,744,535...20,772,827
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Ifna1
interferon, alpha 1
susceptibility
ISO
DNA:SNP:promoter: -1823G>A (rs1332190)(human)
RGD
PMID:26694082
RGD:36174029
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
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Cd274
CD274 molecule
treatment
ISO
RGD
PMID:29058791
RGD:41412178
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Mbl2
mannose binding lectin 2
susceptibility
ISO
associated with HIV Infections;DNA:polymorphism:cds:
RGD
PMID:21592999
RGD:12910861
NCBI chr 1:228,016,439...228,024,736
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:29058791 PMID:29058791
RGD:41412178 , RGD:41412178
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Btk
Bruton tyrosine kinase
exacerbates
ISO
RGD
PMID:23820392
RGD:124715476
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Ccl2
C-C motif chemokine ligand 2
ISO
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:11714821
RGD:11528563
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Cd40
CD40 molecule
treatment
ISO
RGD
PMID:16552046
RGD:7248435
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd86
CD86 molecule
ISO
protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:16790753
RGD:4892554
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Chia
chitinase, acidic
IEP
protein:increased expression:lung (rat)
RGD
PMID:18482441
RGD:4990459
NCBI chr 2:193,614,374...193,656,532
Ensembl chr 2:193,614,114...193,656,533
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Il23a
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:16393998 PMID:22342846
RGD:39457936 , RGD:39458042
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Il33
interleukin 33
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Il4r
interleukin 4 receptor
ISO
RGD
PMID:18954266
RGD:4890005
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Marco
macrophage receptor with collagenous structure
disease_progression
ISO
RGD
PMID:28298522
RGD:41412191
NCBI chr13:31,616,278...31,648,521
Ensembl chr13:31,616,278...31,648,521
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Sftpc
surfactant protein C
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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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 chr 3:7,072,511...7,075,439
Ensembl chr 3:7,072,511...7,075,439
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Il1rn
interleukin 1 receptor antagonist
ISO
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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 chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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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 chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016
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Nfkbia
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
ClinVar
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:SNP:exon:p.G54D(rs1800450)(human)
RGD
PMID:15249448
RGD:8693755
NCBI chr 1:228,016,439...228,024,736
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
protein:decreased expression:bronchiole epithelium
RGD
PMID:15364771
RGD:7364741
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
DNA:insertion/deletion
RGD
PMID:15709052
RGD:7349353
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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Mucl3
mucin like 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22152429
NCBI chr20:3,100,652...3,108,569
Ensembl chr20:3,100,679...3,108,569
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Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphisms:exon:
RGD
PMID:10323341
RGD:5147847
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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Il21
interleukin 21
ISO
protein:increased expression:CD4-positive helper T cell (mouse)
RGD
PMID:26597007
RGD:11086452
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Casp3
caspase 3
treatment
IEP
RGD
PMID:26920733
RGD:13782281
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp6
caspase 6
treatment
IEP
RGD
PMID:26920733
RGD:13782281
NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502
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Casp7
caspase 7
treatment
IEP
RGD
PMID:26920733
RGD:13782281
NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729
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Casp9
caspase 9
treatment
IEP
RGD
PMID:26920733
RGD:13782281
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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Il1a
interleukin 1 alpha
IEP
protein:increased expression:endometrium
RGD
PMID:25330821
RGD:11059518
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Trem1
triggering receptor expressed on myeloid cells 1
ameliorates
ISO
RGD
PMID:31365951
RGD:126928127
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Abcb11
ATP binding cassette subfamily B member 11
IEP
RGD
PMID:9828229
RGD:1598596
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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Abcb1a
ATP binding cassette subfamily B member 1A
IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:26977098
RGD:11041000
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abcb1b
ATP-binding cassette, sub-family B member 1B
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20300455 PMID:9828229
RGD:1598596
NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199
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Abcc2
ATP binding cassette subfamily C member 2
IEP
RGD
PMID:16572733
RGD:1598611
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Abcc8
ATP binding cassette subfamily C member 8
IEP
RGD
PMID:17285300
RGD:2301914
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Ace
angiotensin I converting enzyme
IEP
associated with Hemorrhage;protein:decreased activity:plasma (rat)
RGD
PMID:3028670
RGD:8142370
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ache
acetylcholinesterase
ISO
RGD
PMID:17657467
RGD:5688055
NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651
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Actc1
actin, alpha, cardiac muscle 1
IEP
RGD
PMID:11680626
RGD:1598729
NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
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Adamts1
ADAM metallopeptidase with thrombospondin type 1 motif, 1
IEP
protein:increased expression:plasma, spleen
RGD
PMID:23025351
RGD:9681752
NCBI chr11:24,932,227...24,941,068
Ensembl chr11:24,931,761...24,941,103
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Adipoq
adiponectin, C1Q and collagen domain containing
IEP
associated with Obesity
RGD
PMID:23838384
RGD:8695926
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adipor2
adiponectin receptor 2
severity
IEP
associated with obesity;mRNA:decreased expression:liver (rat)
RGD
PMID:23838384
RGD:8695926
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
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Adra2a
adrenoceptor alpha 2A
onset
IEP
mRNA:increased expression:spleen
RGD
PMID:20302880
RGD:6480487
NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365
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Agtr2
angiotensin II receptor, type 2
IEP
protein:decreased expression:kidney
RGD
PMID:16725227
RGD:6903849
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Ahr
aryl hydrocarbon receptor
severity
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Akp3
alkaline phosphatase 3, intestine, not Mn requiring
ISO
RGD
PMID:23569246
RGD:14349049
NCBI chr 9:87,804,680...87,808,715
Ensembl chr 9:87,804,749...87,807,913
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Akt1
AKT serine/threonine kinase 1
IEP
RGD
PMID:22824368
RGD:38676479
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Aldoa
aldolase, fructose-bisphosphate A
IEP
RGD
PMID:16930621
RGD:1599054
NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
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Alox5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15328337
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Apoa1
apolipoprotein A1
treatment
ISO IDA
RGD
PMID:18593575 PMID:23227448
RGD:7241573 , RGD:7241868
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apob
apolipoprotein B
IEP
RGD
PMID:16719989
RGD:1599165
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Apoe
apolipoprotein E
ISO
rat model treated with human protein
RGD
PMID:9153287
RGD:6904216
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Asl
argininosuccinate lyase
IEP
RGD
PMID:10652239
RGD:1599265
NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
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Ass1
argininosuccinate synthase 1
IEP
RGD
PMID:10652239
RGD:1599265
NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
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Atf2
activating transcription factor 2
treatment
IEP IDA
protein:increased expression, increased activity:small intestine mucosa
RGD
PMID:21641970 PMID:24312512
RGD:5135029 , RGD:10047418
NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
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Atp5f1a
ATP synthase F1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16741687
NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
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Bax
BCL2 associated X, apoptosis regulator
IEP
mRNA:increased expression:diaphragm
RGD
PMID:23940949
RGD:10054120
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bche
butyrylcholinesterase
ISO
RGD
PMID:17657467
RGD:5688055
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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Bcl2
BCL2, apoptosis regulator
IEP
mRNA:decreased expression:diaphragm
RGD
PMID:23940949
RGD:10054120
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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C5ar1
complement C5a receptor 1
IEP
mRNA:increased expression:lung
RGD
PMID:9272704
RGD:70679
NCBI chr 1:76,948,622...76,959,826
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Casp1
caspase 1
IMP
RGD
PMID:17384935
RGD:2315892
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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Casp3
caspase 3
IEP
mRNA:increased expression:diaphragm
RGD
PMID:23940949
RGD:10054120
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp7
caspase 7
ISO
RGD
PMID:19168786
RGD:5684539
NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729
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Casp9
caspase 9
treatment
IEP
RGD
PMID:23214195
RGD:10400903
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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Cbs
cystathionine beta synthase
severity
ISO IEP
mRNA:increased expression:liver (rat) Protein:increased expression:spleen, lung (mouse)
RGD
PMID:27748832 PMID:16100527 PMID:24702258 PMID:27748832
RGD:40903019 , RGD:40903049 , RGD:40903035 , RGD:40903019
NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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Ccl2
C-C motif chemokine ligand 2
IEP
protein:increased expression:plasma
RGD
PMID:19060786
RGD:2307004
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl5
C-C motif chemokine ligand 5
IEP
protein:increased expression:plasma
RGD
PMID:16215387
RGD:2307171
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:17016504
RGD:5688178
NCBI chr 8:123,556,286...123,561,841
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Cd14
CD14 molecule
IEP
protein:increased expression:liver, endothelial cell of sinusoid
RGD
PMID:12046090
RGD:724637
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cd40
CD40 molecule
ISO
protein:decreased nitrosylation:macrophage
RGD
PMID:20473113
RGD:5490974
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cebpb
CCAAT/enhancer binding protein beta
treatment
IEP ISO
RGD
PMID:15192048 PMID:14659593
RGD:1625687 , RGD:40903034
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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Cps1
carbamoyl-phosphate synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16741687
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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Cs
citrate synthase
IEP
protein:increased expression:gastrocnemius
RGD
PMID:25674200
RGD:329337350
NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421
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Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:9514298
RGD:11039535
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
protein:increased expression:atrium endocardium
RGD
PMID:19282612
RGD:4891965
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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Cxcl1
C-X-C motif chemokine ligand 1
ISO
mRNA:increased expression:multiple organs
RGD
PMID:9766630
RGD:5135254
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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Cxcl2
C-X-C motif chemokine ligand 2
ISO
mRNA:increased expression:multiple organs
RGD
PMID:9766630
RGD:5135254
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Cxcl6
C-X-C motif chemokine ligand 6
ISO
mRNA:increased expression:multiple organs
RGD
PMID:9766630
RGD:5135254
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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Edn1
endothelin 1
IEP
mRNA, protein:increased expression:liver (rat)
RGD
PMID:11206318
RGD:8662297
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Ep300
E1A binding protein p300
IEP
associated with Kidney Reperfusion Injury; protein:altered localization:kidney (rat)
RGD
PMID:23936185
RGD:7257563
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Ephx2
epoxide hydrolase 2
ISO
RGD
PMID:19154430
RGD:5688360
NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
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Epo
erythropoietin
treatment
ISO
RGD
PMID:23214195
RGD:10400903
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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F12
coagulation factor XII
IEP
RGD
PMID:11092686
RGD:7394782
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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F2
coagulation factor II, thrombin
treatment severity
IDA ISO IEP
associated with liver cirrhosis;protein:increased expression:blood plasma (human) associated with liver cirrhosis;protein:increased expression:plasma (human)
RGD
PMID:21396682 PMID:10604885 PMID:7615203 PMID:10887118 PMID:9863491 PMID:25396762 PMID:22227956 PMID:20519137 More...
RGD:5147765 , RGD:40818436 , RGD:14974253 , RGD:40818427 , RGD:14401592 , RGD:10449434 , RGD:6893482 , RGD:5147779
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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F3
coagulation factor III, tissue factor
treatment
IDA ISO
associated with Protein C Deficiency
RGD
PMID:21396682 PMID:20858853 PMID:8956768
RGD:5147765 , RGD:11341685 , RGD:11340208
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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F5
coagulation factor V
IEP
RGD
PMID:11092686
RGD:7394782
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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F7
coagulation factor VII
treatment
IEP ISO
RGD
PMID:11092686 PMID:16378835
RGD:7394782 , RGD:11041650
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
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F8
coagulation factor VIII
IEP
RGD
PMID:11092686
RGD:7394782
NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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Fas
Fas cell surface death receptor
IEP
mRNA, protein:increased expression:spleen (rat)
RGD
PMID:20428798
RGD:8662930
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fga
fibrinogen alpha chain
treatment
IDA
RGD
PMID:19295478
RGD:11040925
NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
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Foxp3
forkhead box P3
IEP
protein:increased expression:intestinal mucosa
RGD
PMID:19998507
RGD:38455980
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Gch1
GTP cyclohydrolase 1
treatment
IEP
mRNA:increased expression:lung associated with liver cirrhosis
RGD
PMID:9388472 PMID:16845913 PMID:14647062
RGD:329961576 , RGD:401793756 , RGD:401700399
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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Gfer
growth factor, augmenter of liver regeneration
IEP
RGD
PMID:23073658
RGD:9685733
NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
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Ghr
growth hormone receptor
IEP
mRNA:decreased expression:liver
RGD
PMID:12654216 PMID:12217886
RGD:2307380 , RGD:625688
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
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Gpt
glutamic--pyruvic transaminase
treatment
IEP
RGD
PMID:25514429
RGD:401717525
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
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Gsr
glutathione-disulfide reductase
treatment
IEP
RGD
PMID:25469663
RGD:10401928
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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Hmgb1
high mobility group box 1
IEP
protein:increased expression:heart, serum
RGD
PMID:18503231
RGD:10402065
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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Hmox1
heme oxygenase 1
treatment
IEP
RGD
PMID:21396999
RGD:10755715
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hsf1
heat shock transcription factor 1
treatment
IDA
RGD
PMID:25571843
RGD:10402404
NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
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Hspa9
heat shock protein family A (Hsp70) member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16741687
NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
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Hspd1
heat shock protein family D (Hsp60) member 1
IEP ISO
mRNA, protein:increased expression:medulla oblongata CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16741687 PMID:16675490
RGD:1624232
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Icam1
intercellular adhesion molecule 1
IEP
protein:increased expression:lung (rat)
RGD
PMID:19776691
RGD:4145502
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:24930766 PMID:28077574
RGD:39939032 , RGD:39939117
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Ido2
indoleamine 2,3-dioxygenase 2
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chr16:67,459,158...67,498,052
Ensembl chr16:67,459,190...67,496,324
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Ifng
interferon gamma
IEP
protein:increased expression:serum:
RGD
PMID:9195172
RGD:10755747
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Igf1
insulin-like growth factor 1
IEP
mRNA, protein:decreased expression:liver, serum
RGD
PMID:18492809 PMID:12217886
RGD:10402757 , RGD:625688
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igfals
insulin-like growth factor binding protein, acid labile subunit
IEP
RGD
PMID:12217886
RGD:625688
NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
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Igfbp1
insulin-like growth factor binding protein 1
IEP
RGD
PMID:12217886
RGD:625688
NCBI chr14:82,047,415...82,052,482
Ensembl chr14:82,047,415...82,052,482
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Igfbp3
insulin-like growth factor binding protein 3
IEP
mRNA, protein:decreased expression:liver, serum
RGD
PMID:18492809
RGD:10402757
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Igfbp5
insulin-like growth factor binding protein 5
IEP
RGD
PMID:12217886
RGD:625688
NCBI chr 9:74,452,371...74,464,953
Ensembl chr 9:74,448,382...74,465,156
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Il10
interleukin 10
treatment
IEP ISO
protein:increased expression:plasma
RGD
PMID:19302852 PMID:27943364 PMID:28664613
RGD:2311055 , RGD:14975170 , RGD:14975137
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il13
interleukin 13
treatment
ISO
RGD
PMID:10674721
RGD:8549626
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il1a
interleukin 1 alpha
ISO IEP
protein:increased expression:plasma
RGD
PMID:9636192 PMID:22426124
RGD:6907109 , RGD:7794786
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
IEP
protein:increased expression:plasma
RGD
PMID:17201737
RGD:1626625
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
treatment
IEP ISO
mRNA:increased expression:lung, spleen, liver (rat)
RGD
PMID:1385928 PMID:8855299
RGD:8551846 , RGD:11522760
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il6
interleukin 6
IDA IEP
associated with Diabetes Mellitus, Experimental; Protein:increased expression:extracellular space (rat) protein:increased expression:serum (rat)
RGD
PMID:19449282 PMID:22227956 PMID:21396682
RGD:2307179 , RGD:6893482 , RGD:5147765
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irak3
interleukin-1 receptor-associated kinase 3
ISO
mRNA, protein:increased expression:blood (human)
RGD
PMID:17982103
RGD:36049802
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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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 chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
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Itga2b
integrin subunit alpha 2b
IMP
RGD
PMID:15280099
RGD:2316360
NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
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Itgb3
integrin subunit beta 3
IMP
RGD
PMID:15280099
RGD:2316360
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Keap1
Kelch-like ECH-associated protein 1
ISO
RGD
PMID:22609006
RGD:6892951
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
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Lbp
lipopolysaccharide binding protein
treatment
IEP ISO
mRNA:increased expression:hepatocyte
RGD
PMID:8418776 PMID:8593028 PMID:16307218
RGD:9685191 , RGD:9685196 , RGD:9685193
NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586
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Lcn2
lipocalin 2
ISO
mRNA:increased expression:brain,liver
RGD
PMID:21943033
RGD:126779582
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Map2
microtubule-associated protein 2
ISO
mRNA, protein:decreased expression:neuron
RGD
PMID:21421895
RGD:6483086
NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
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Mapk14
mitogen activated protein kinase 14
treatment
IEP IDA
protein:increased activity:small intestine mucosa
RGD
PMID:21641970 PMID:24312512
RGD:5135029 , RGD:10047418
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
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Mapk8
mitogen-activated protein kinase 8
IEP
protein:increased phophorylation:hippocampus (rat)
RGD
PMID:12207162
RGD:150340687
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Mc4r
melanocortin 4 receptor
IEP
mRNA:increased expression:paraventricular nucleus (rat)
RGD
PMID:21343543
RGD:6484214
NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
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Mif
macrophage migration inhibitory factor
IEP
protein:increased expression:plasma
RGD
PMID:16601957
RGD:1641983
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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Mir146a
microRNA 146a
treatment
ISO
miRNA:increased expression:spleen (mouse)
RGD
PMID:30867482
RGD:34888227
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Mir155
microRNA 155
treatment
ISO
associated with familial hyperlipidemia
RGD
PMID:28970282 PMID:28264607 PMID:29079998 PMID:29979224
RGD:21079445 , RGD:24922204 , RGD:21081539 , RGD:21081538
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mme
membrane metallo-endopeptidase
severity
IMP
RGD
PMID:11078421
RGD:13801040
NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
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Mmp3
matrix metallopeptidase 3
IEP
RGD
PMID:17083784
RGD:2290426
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mt2A
metallothionein 2A
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:22100509
RGD:6483852
NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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Mt3
metallothionein 3
IEP
RGD
PMID:12135776
RGD:10412330
NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
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Muc2
mucin 2, oligomeric mucus/gel-forming
IEP
RGD
PMID:19099858
RGD:7349370
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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Myh6
myosin heavy chain 6
IEP
RGD
PMID:7874842
RGD:12792976
NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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Myh7
myosin heavy chain 7
IEP
RGD
PMID:7874842
RGD:12792976
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
IEP
RGD
PMID:26646455
RGD:42722616
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nfkbia
NFKB inhibitor alpha
exacerbates treatment
ISO
RGD
PMID:19098124 PMID:10229101
RGD:126908017 , RGD:126928139
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Nos2
nitric oxide synthase 2
IEP ISO IDA
mRNA, protein:increased expression:intestine CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12620498 PMID:16787348 PMID:20519137
RGD:4891470 , RGD:5147779
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
IEP
protein:increased expression:aorta (rat)
RGD
PMID:10462376
RGD:7794732
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Npy
neuropeptide Y
treatment
IDA
RGD
PMID:15342191
RGD:1580787
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
IDA
RGD
PMID:15640646
RGD:4892561
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Otc
ornithine transcarbamylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16741687
NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
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Pck1
phosphoenolpyruvate carboxykinase 1
IEP
RGD
PMID:19268478 PMID:12217886
RGD:10427879 , RGD:625688
NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191
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Pck2
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
IEP
mRNA,protein:decreased expression,decreased activity:liver:
RGD
PMID:19268478
RGD:10427879
NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283
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Pcsk1
proprotein convertase subtilisin/kexin type 1
IEP
RGD
PMID:16337011
RGD:6483567
NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
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Pcsk2
proprotein convertase subtilisin/kexin type 2
IEP
RGD
PMID:16337011
RGD:6483567
NCBI chr 3:130,880,422...131,183,127
Ensembl chr 3:130,880,422...131,183,127
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
RGD
PMID:22119535
RGD:6771174
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Pf4
platelet factor 4
treatment
IEP
RGD
PMID:20601223
RGD:329901905
NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
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Pgf
placental growth factor
ISO
protein:increased expression:multiple
RGD
PMID:16702604
RGD:6483601
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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Pla2g7
phospholipase A2 group VII
IEP
protein:increased expression: :
RGD
PMID:10748027
RGD:7248791
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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Plat
plasminogen activator, tissue type
treatment
ISO
RGD
PMID:9091588
RGD:11541073
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Pparg
peroxisome proliferator-activated receptor gamma
IEP
protein:increased expression:small intestine mucosa
RGD
PMID:21641970
RGD:5135029
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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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 chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
protein:increased expression:liver, mitochondrion (mouse)
RGD
PMID:28615325
RGD:13432559
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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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 chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Ptafr
platelet-activating factor receptor
treatment
IMP
RGD
PMID:2178565
RGD:10041063
NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251
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Ptger4
prostaglandin E receptor 4
IEP
protein:increased expression:paraventricular hypothalamic nucleus parvicellular division (rat)
RGD
PMID:11058222
RGD:10043329
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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Ptgis
prostaglandin I2 synthase
treatment
IMP
RGD
PMID:11076704
RGD:401960076
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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Ptgs2
prostaglandin-endoperoxide synthase 2
IEP
RGD
PMID:21641970
RGD:5135029
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ren
renin
ISO IEP
protein:increased activity:blood plasma (mouse) protein:increased activity:blood plasma (rat)
RGD
PMID:30027346 PMID:16512638
RGD:125097481 , RGD:125097499
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Serpinc1
serpin family C member 1
treatment
ISO IDA IEP
RGD
PMID:16457847 PMID:21396682 PMID:20519137 PMID:15995859
RGD:1599326 , RGD:5147765 , RGD:5147779 , RGD:1599332
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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Serpine1
serpin family E member 1
treatment
IEP IDA
RGD
PMID:21396682 PMID:25396762
RGD:5147765 , RGD:10449434
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Serpinf1
serpin family F member 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:12386642
RGD:36174005
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Serping1
serpin family G member 1
treatment
ISO
RGD
PMID:18652771
RGD:8661643
NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
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Slc18a3
solute carrier family 18 member A3
IEP
protein:decreased expression:parietal cortex
RGD
PMID:17306796
RGD:5686693
NCBI chr16:7,713,630...7,716,491
G
Slc22a1
solute carrier family 22 member 1
treatment
IDA
RGD
PMID:18313662
RGD:7243881
NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
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Slc22a2
solute carrier family 22 member 2
treatment
IDA
RGD
PMID:18313662
RGD:7243881
NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
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Slc38a3
solute carrier family 38, member 3
IEP
RGD
PMID:20036385
RGD:9999227
NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988
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Slc38a5
solute carrier family 38, member 5
IEP
RGD
PMID:20036385
RGD:9999227
NCBI chr X:14,213,727...14,222,498
Ensembl chr X:14,213,729...14,222,498
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Slc7a5
solute carrier family 7 member 5
IEP
RGD
PMID:26337286
RGD:151361133
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Slpi
secretory leukocyte peptidase inhibitor
IEP
RGD
PMID:25466948
RGD:9999425
NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
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Socs1
suppressor of cytokine signaling 1
ISO
mRNA:increased expression:liver, skeletal muscle
RGD
PMID:15169905
RGD:2298923
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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Socs3
suppressor of cytokine signaling 3
ISO IEP
mRNA:increased expression:liver, skeletal muscle
RGD
PMID:15169905 PMID:12217886
RGD:2298923 , RGD:625688
NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16741687
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sparc
secreted protein acidic and cysteine rich
IEP
mRNA, protein:decreased expression:kidney
RGD
PMID:10703670
RGD:2300026
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Stat5b
signal transducer and activator of transcription 5B
IDA
protein:decreased tyrosine phosphorylation:liver
RGD
PMID:17327369
RGD:1601383
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Tbxa2r
thromboxane A2 receptor
IDA IMP
RGD
PMID:15647606 PMID:2580129
RGD:1601450 , RGD:11059531
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
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Tbxas1
thromboxane A synthase 1
IDA
RGD
PMID:15647606
RGD:1601450
NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096
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Tdo2
tryptophan 2,3-dioxygenase
severity
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chr 2:167,269,581...167,287,511
Ensembl chr 2:167,269,579...167,287,511
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Tfpi
tissue factor pathway inhibitor
treatment
ISO
RGD
PMID:17537762
RGD:11062086
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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Thbd
thrombomodulin
IEP ISO
mRNA:decreased expression:endothelial cell
RGD
PMID:12611420 PMID:20348393 PMID:19487933
RGD:1601652 , RGD:5685037 , RGD:5684988
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Timp3
TIMP metallopeptidase inhibitor 3
IEP
RGD
PMID:17083784
RGD:2290426
NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839
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Tlr2
toll-like receptor 2
treatment
IDA
RGD
PMID:22172266
RGD:7241094
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
treatment disease_progression
IDA ISO
mRNA:increased expression:liver:
RGD
PMID:22172266 PMID:23977376 PMID:23977376
RGD:7241094 , RGD:14697731 , RGD:14697731
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
treatment
IEP ISO IDA
protein:increased expression:plasma XCO:0000822 JTE-607 associated with liver cirrhosis protein:increased expression:plasma (rat)
RGD
PMID:17324147 PMID:10493164 PMID:15242491 PMID:18078960 PMID:8283134 PMID:12813371 PMID:21396682 PMID:20519137 More...
RGD:4891465 , RGD:40903016 , RGD:38501090 , RGD:15023464 , RGD:14995443 , RGD:14995427 , RGD:5147765 , RGD:5147779
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Trem1
triggering receptor expressed on myeloid cells 1
treatment
ISO
RGD
PMID:21507332 PMID:15585833
RGD:126925982 , RGD:126928122
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Vcam1
vascular cell adhesion molecule 1
IEP
mRNA:increased expression:brain:
RGD
PMID:20061033
RGD:7240511
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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Vwf
von Willebrand factor
IEP
protein:increased expression:endothelial cell:
RGD
PMID:2650559
RGD:11079230
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Gch1
GTP cyclohydrolase 1
treatment
IDA
RGD
PMID:8602831
RGD:329961578
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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Htr2a
5-hydroxytryptamine receptor 2A
treatment
IMP
RGD
PMID:19318092
RGD:401901206
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
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Csf3
colony stimulating factor 3
IEP
RGD
PMID:9835289
RGD:11039473
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Fgf7
fibroblast growth factor 7
ISO
mRNA:increased expression:distal colon (mouse)
RGD
PMID:10338516
RGD:126928149
NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24498193
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Ccl4
C-C motif chemokine ligand 4
IEP
mRNA:increased expression:brain
RGD
PMID:16238536
RGD:5683919
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Hba-a1
hemoglobin alpha, adult chain 1
treatment
ISO
RGD
PMID:18786935
RGD:10449443
NCBI chr10:15,337,265...15,338,121
Ensembl chr10:15,307,815...15,338,392
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Hba-a2
hemoglobin alpha, adult chain 2
treatment
ISO
RGD
PMID:18786935
RGD:10449443
NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392
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Hba-a3
hemoglobin alpha, adult chain 3
treatment
ISO
RGD
PMID:18786935
RGD:10449443
NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481
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Irak3
interleukin-1 receptor-associated kinase 3
treatment
ISO
RGD
PMID:27832756
RGD:34888235
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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Lcn2
lipocalin 2
exacerbates
ISO
protein:increased expression:serum
RGD
PMID:25234944 PMID:16446425 PMID:25234944
RGD:126725084 , RGD:126779557 , RGD:126725084
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Muc2
mucin 2, oligomeric mucus/gel-forming
IEP
RGD
PMID:23798529
RGD:7349358
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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Ntrk2
neurotrophic receptor tyrosine kinase 2
onset
IEP
protein:decreased expression:hippocampus
RGD
PMID:21411668
RGD:5684914
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
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Plac8
placenta associated 8
severity
ISO
RGD
PMID:17404296
RGD:40924563
NCBI chr14:9,052,601...9,074,264
Ensembl chr14:9,063,048...9,074,264
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Rnasel
ribonuclease L
severity
ISO
RGD
PMID:19075243
RGD:40902812
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
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Slc6a4
solute carrier family 6 member 4
ISO
RGD
PMID:19747920
RGD:36947380
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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Tnf
tumor necrosis factor
IEP
protein:increased expression:serum (rat)
RGD
PMID:9466473
RGD:38508904
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tlr2
toll-like receptor 2
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr7
toll-like receptor 7
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754
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Comt
catechol-O-methyltransferase
severity
ISO
DNA:missense mutation:cds: (rs4680) (human)
RGD
PMID:20184498
RGD:8662334
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Tlr2
toll-like receptor 2
ISO
mRNA:increased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
mRNA:decreased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Cd209d
CD209d molecule
susceptibility
ISO
DNA:SNPs:promoter: -939G>A,-871A>G (rs735239) (human)
RGD
PMID:24874302
RGD:39938981
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Clec4m
C-type lectin domain family 4 member M
susceptibility
ISO
DNA:repeats:exon 4: allele 6, allele 9 (human)
RGD
PMID:24874302
RGD:39938981
NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
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Ereg
epiregulin
susceptibility
ISO
DNA:SNP:exon 4: (rs2367707) (human)
RGD
PMID:30634928
RGD:39457687
NCBI chr14:17,027,287...17,041,062
Ensembl chr14:17,027,287...17,041,062
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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:28492532 PMID:32926179 More...
NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
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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 chr 1:85,814,905...85,816,654
Ensembl chr 1:85,814,905...85,816,192
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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:25323700 PMID:25741868 PMID:26337232 PMID:26467025 PMID:27264813 PMID:27930341 PMID:28492532 PMID:32087291 More...
NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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Ncstn
nicastrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
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Psen1
presenilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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Psenen
presenilin enhancer gamma secretase subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr 1:85,814,905...85,816,654
Ensembl chr 1:85,814,905...85,816,192
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Mir146a
microRNA 146a
susceptibility
ISO
miRNA:SNP: (rs57095329) (human)
RGD
PMID:29216791
RGD:126925194
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Nefl
neurofilament light chain
ISO
protein:increased expression:CSF (human)
RGD
PMID:30048013
RGD:127285394
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Prnp
prion protein
ISO ISS
ClinVar Annotator: match by term: Fatal familial insomnia OMIM:600072 CTD Direct Evidence: marker/mechanism
ClinVar OMIM MouseDO CTD
PMID:1351274 PMID:1353341 PMID:1404799 PMID:1439789 PMID:1469441 PMID:1671440 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1684755 PMID:1684758 PMID:1798423 PMID:1971924 PMID:1975028 PMID:2253724 PMID:2378641 PMID:2572450 PMID:2783132 PMID:7902693 PMID:7908444 PMID:7916462 PMID:7936296 PMID:7999318 PMID:8105682 PMID:8137139 PMID:8461023 PMID:8618678 PMID:9270595 PMID:9279329 PMID:9531435 PMID:9643750 PMID:9748018 PMID:9751723 PMID:9786248 PMID:9789072 PMID:9813003 PMID:10079068 PMID:10090891 PMID:10360778 PMID:10437852 PMID:10526198 PMID:10581230 PMID:10588836 PMID:10665501 PMID:10889050 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11756597 PMID:11839833 PMID:11840201 PMID:12451207 PMID:12590162 PMID:12601712 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15366237 PMID:15539564 PMID:15987701 PMID:16217673 PMID:16227536 PMID:16313190 PMID:16315279 PMID:16369046 PMID:16391566 PMID:16565881 PMID:16969862 PMID:17013786 PMID:17029785 PMID:17494694 PMID:18955686 PMID:19422533 PMID:19422537 PMID:19543376 PMID:19680558 PMID:19703264 PMID:19923577 PMID:20038778 PMID:20139714 PMID:20301407 PMID:20514992 PMID:20583301 PMID:20592908 PMID:20593190 PMID:21269331 PMID:21298055 PMID:21616973 PMID:21839748 PMID:21909425 PMID:21983261 PMID:22072968 PMID:22108575 PMID:22318125 PMID:22561193 PMID:22584955 PMID:22947063 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23296137 PMID:23320809 PMID:23527023 PMID:23555862 PMID:23723004 PMID:24583440 PMID:24838726 PMID:25064618 PMID:25279981 PMID:25482600 PMID:25522698 PMID:25741868 PMID:25818675 PMID:26000326 PMID:26268049 PMID:26488179 PMID:26578040 PMID:26791950 PMID:27341347 PMID:27350609 PMID:27803826 PMID:28492532 PMID:29092967 PMID:29382530 PMID:29887139 More...
NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
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Tlr2
toll-like receptor 2
IEP
mRNA:increased expression:cornea
RGD
PMID:19474209
RGD:2312502
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
IEP
mRNA:increased expression:cornea
RGD
PMID:19474209
RGD:2312502
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:sinus:
RGD
PMID:22287435
RGD:7483612
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl20
C-C motif chemokine ligand 20
ISO
associated with Rhinosinusitis
RGD
PMID:22287435
RGD:7483612
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:22287435
RGD:7483612
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr6
C-C motif chemokine receptor 6
ISO
associated with Rhinosinusitis
RGD
PMID:22287435
RGD:7483612
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
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Mbl2
mannose binding lectin 2
treatment
ISO
associated with Hematologic Diseases;DNA:polymorphisms:promoter,exon:
RGD
PMID:24886325
RGD:11530048
NCBI chr 1:228,016,439...228,024,736
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Clec7a
C-type lectin domain containing 7A
treatment
ISO
mRNA:increased expression:cornea
RGD
PMID:26963514 PMID:26963514
RGD:11526921 , RGD:11526921
NCBI chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:20617171
RGD:7794847
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Trem1
triggering receptor expressed on myeloid cells 1
treatment
ISO
mRNA:increased expression:cornea
RGD
PMID:26963514 PMID:26963514 PMID:26963514
RGD:11526921 , RGD:11526921 , RGD:11526921
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Tslp
thymic stromal lymphopoietin
disease_progression
ISO
RGD
PMID:29550278 PMID:30853520
RGD:38549371 , RGD:38549574
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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C5
complement C5
ISO
RGD
PMID:2612053
RGD:5130160
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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Ccl7
C-C motif chemokine ligand 7
ISO
RGD
PMID:20045013
RGD:5129686
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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Gata2
GATA binding protein 2
IEP
associated with Pneumocystis Infections
RGD
PMID:16774119
RGD:9587813
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
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Il13
interleukin 13
IEP ISO
protein:increased expression:lung
RGD
PMID:16544260 PMID:19752036
RGD:4145506 , RGD:4145474
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il33
interleukin 33
ISO
protein:increased expression:lung
RGD
PMID:25746970
RGD:39938968
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Nos2
nitric oxide synthase 2
IEP
protein:decreased expression:lung
RGD
PMID:10639453
RGD:4891455
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Sftpa1
surfactant protein A1
susceptibility
ISO
RGD
PMID:20413160
RGD:4143489
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Sftpd
surfactant protein D
susceptibility
ISO
RGD
PMID:20413160 PMID:20413160
RGD:4143489 , RGD:4143489
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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Tnf
tumor necrosis factor
IEP
protein:increased expression:lung
RGD
PMID:16544260
RGD:4145506
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Cd274
CD274 molecule
treatment
ISO
RGD
PMID:23663657
RGD:40818234
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Pdcd1
programmed cell death 1
treatment
ISO
protein:increased expression:CD4 Tcell, CD8 Tcell:
RGD
PMID:23663657 PMID:23663657
RGD:40818234 , RGD:40818234
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Asip
agouti signaling protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32937126
NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
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Mir21
microRNA 21
severity
ISO
associated with colorectal cancer
RGD
PMID:27876571
RGD:40925941
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Gsn
gelsolin
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:9142022
RGD:329333022
NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
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Ccl5
C-C motif chemokine ligand 5
ISO
RGD
PMID:12502811
RGD:4890015
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ifnar1
interferon alpha and beta receptor subunit 1
exacerbates
ISO
RGD
PMID:28264883
RGD:125093738
NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
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Ifng
interferon gamma
ISO
protein:increased expression:vaginal secretion:
RGD
PMID:10366565
RGD:8158034
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il21
interleukin 21
treatment
ISO
RGD
PMID:24358128
RGD:127285365
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Il3
interleukin 3
ISO
RNA: increased expression
RGD
PMID:21175248
RGD:5686876
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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Irf9
interferon regulatory factor 9
exacerbates
ISO
RGD
PMID:28264883
RGD:125093738
NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
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Nfe2l2
NFE2 like bZIP transcription factor 2
ameliorates
ISO
RGD
PMID:31555293
RGD:42722615
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Rnasel
ribonuclease L
severity
ISO
RGD
PMID:17157346
RGD:40902623
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
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Stat4
signal transducer and activator of transcription 4
treatment severity
ISO
DNA:SNP:intron:rs7572482 (human) DNA:SNPs, haplotype: :multiple
RGD
PMID:22718836 PMID:22718836
RGD:8661697 , RGD:8661697
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Prnp
prion protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED | ClinVar Annotator: match by term: Encephalopathy subacute spongiform Gerstmann-Straussler type | ClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndrome
CTD OMIM ClinVar
PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 PMID:1672296 PMID:1674033 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 PMID:2180366 PMID:2190844 PMID:2378641 PMID:2564168 PMID:2572450 PMID:2783132 PMID:2812321 PMID:7501157 PMID:7902693 PMID:7902971 PMID:7902972 PMID:7908444 PMID:7954833 PMID:8137139 PMID:8461023 PMID:8570627 PMID:8698234 PMID:8939199 PMID:9452375 PMID:9643750 PMID:9653185 PMID:9748018 PMID:9751723 PMID:9789072 PMID:10079068 PMID:10203975 PMID:10437852 PMID:10506086 PMID:10526198 PMID:10581230 PMID:10581485 PMID:10631141 PMID:10698707 PMID:10790216 PMID:10953183 PMID:10953203 PMID:10970892 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11568919 PMID:11704923 PMID:11709001 PMID:11749972 PMID:11756597 PMID:11840201 PMID:11967261 PMID:12172394 PMID:12372829 PMID:12451207 PMID:12590162 PMID:12601712 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14761942 PMID:14872044 PMID:14970845 PMID:15277640 PMID:15539564 PMID:15824374 PMID:15967879 PMID:15987701 PMID:16025285 PMID:16217673 PMID:16315279 PMID:16369046 PMID:16380907 PMID:16391566 PMID:16565881 PMID:16939293 PMID:16969862 PMID:17029785 PMID:17353478 PMID:17494694 PMID:17666888 PMID:18955686 PMID:19225789 PMID:19422533 PMID:19422537 PMID:19675240 PMID:19680558 PMID:19696976 PMID:19703264 PMID:19911184 PMID:19923577 PMID:20301407 PMID:20541558 PMID:20583301 PMID:20592908 PMID:21269331 PMID:21416485 PMID:21839748 PMID:21909425 PMID:21983261 PMID:22097954 PMID:22108575 PMID:22561193 PMID:22947063 PMID:22965875 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23320809 PMID:23527023 PMID:23555862 PMID:23668481 PMID:24583440 PMID:24838726 PMID:24958194 PMID:25482600 PMID:25741868 PMID:25818675 PMID:25959220 PMID:26268049 PMID:26323476 PMID:26578040 PMID:26791950 PMID:27341347 PMID:27716661 PMID:28492532 PMID:29382530 PMID:29458424 PMID:29887139 PMID:32986314 More...
NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
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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 chr X:60,300,595...60,316,480
Ensembl chr X:60,295,751...60,316,440
G
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 chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
G
Il17a
interleukin 17A
susceptibility
ISO
Moraxellaceae Infections; associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human)
RGD
PMID:20437253
RGD:4889139
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il1b
interleukin 1 beta
ISO
protein:increased expression:lung (mouse)
RGD
PMID:20308302
RGD:4142825
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Rnase3
ribonuclease A family member 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21696142
NCBI chr15:24,511,894...24,512,764
Ensembl chr15:24,511,891...24,512,790
G
Slc6a4
solute carrier family 6 member 4
ISO
protein:decreased expression:colon (mouse)
RGD
PMID:16548890
RGD:38676481
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
G
Ugt1a1
UDP glucuronosyltransferase family 1 member A1
ISO
mRNA:decreased expression:liver
RGD
PMID:16339353
RGD:6482852
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
G
Icos
inducible T-cell co-stimulator
ISO
RGD
PMID:12421962
RGD:1624276
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
G
Rnase3
ribonuclease A family member 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21696142
NCBI chr15:24,511,894...24,512,764
Ensembl chr15:24,511,891...24,512,790
G
Tlr2
toll-like receptor 2
ISO
RGD
PMID:18354210
RGD:7240560
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Irak3
interleukin-1 receptor-associated kinase 3
severity
ISO
RGD
PMID:25585690
RGD:11527046
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
G
Lcn2
lipocalin 2
ISO
mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium
RGD
PMID:16153241
RGD:126781709
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
G
Mir21
microRNA 21
ameliorates
ISO
associated with asthma;
RGD
PMID:27448447
RGD:41404696
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
mRNA, protein:increased expression:macrophage, lung:
RGD
PMID:27330052
RGD:39131287
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
G
Sting1
stimulator of interferon response cGAMP interactor 1
ISO
mRNA,protein:increased expression:lung (mouse)
RGD
PMID:29421524
RGD:39128228
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
G
Fcgr2a
Fc gamma receptor 2A
susceptibility
ISO
associated with Anemia, Sickle Cell;DNA:polymorphism:cds:p.H131R(human)
RGD
PMID:8648541
RGD:11040885
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
G
Abcb1a
ATP binding cassette subfamily B member 1A
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 chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
G
Ace
angiotensin I converting enzyme
susceptibility
ISO
DNA:insertion/deletion:intron:
RGD
PMID:28746216
RGD:40400710
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Acvr1b
activin A receptor type 1B
disease_progression
ISO
associated with stomach cancer;mRNA:increased expression:stomach:
RGD
PMID:32066878
RGD:151665490
NCBI chr 7:132,286,266...132,329,679
Ensembl chr 7:132,286,275...132,329,673
G
Aicda
activation-induced cytidine deaminase
ISO
protein:increased expression:mucosa of stomach (human)
RGD
PMID:23591766
RGD:127285627
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
G
Atm
ATM serine/threonine kinase
ISO
associated with stomach cancer;mRNA:increased expression:stomach (human)
RGD
PMID:29128564
RGD:126790563
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
Birc3
baculoviral IAP repeat-containing 3
treatment
ISO
associated with stomach cancer associated with MALT lymphoma;DNA:gene fusion: (human)
RGD
PMID:27282269 PMID:11398794
RGD:153297818 , RGD:153305954
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
G
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 chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
G
Cd1d1
CD1d1 molecule
ISO
associated with dyspepsia;mRNA:splice variant:pyloric antrum (human)
RGD
PMID:26119195
RGD:11074500
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
G
Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19184424
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
G
Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15138205
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
G
Cxcl6
C-X-C motif chemokine ligand 6
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
G
Cybb
cytochrome b-245 beta chain
disease_progression
ISO
mRNA,protein:increased expression:mucosa of stomach (human)
RGD
PMID:27048452
RGD:40924640
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
G
Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment no_association
ISO
DNA:polymorphisms:exons: DNA:polymorphisms::
RGD
PMID:9867757 PMID:27706745 PMID:15691303
RGD:124713408 , RGD:124713537 , RGD:124713409
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
G
Cysltr1
cysteinyl leukotriene receptor 1
treatment
ISO
RGD
PMID:18571838
RGD:40903061
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
G
Duox2
dual oxidase 2
disease_progression
ISO
mRNA,protein:decreased expression:mucosa of stomach (human)
RGD
PMID:27048452
RGD:40924640
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
G
Egf
epidermal growth factor
treatment
ISO
associated with gastritis;
RGD
PMID:25051417
RGD:38599160
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
G
Egfr
epidermal growth factor receptor
treatment
ISO
associated with gastritis;
RGD
PMID:25051417 PMID:28473630
RGD:38599160 , RGD:38599214
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
G
Erbb2
erb-b2 receptor tyrosine kinase 2
treatment
ISO
associated with gastritis;
RGD
PMID:25051417
RGD:38599160
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
G
F2r
coagulation factor II (thrombin) receptor
ISO
RGD
PMID:24866378
RGD:40924630
NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870
G
Gab1
GRB2-associated binding protein 1
susceptibility
ISO
DNA:SNP:intron:
RGD
PMID:17211494
RGD:39128202
NCBI chr19:27,131,262...27,239,236
Ensembl chr19:27,131,262...27,239,236
G
Hamp
hepcidin antimicrobial peptide
treatment
ISO
RGD
PMID:21757452
RGD:11041721
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
G
Hmox1
heme oxygenase 1
ISO
RGD
PMID:16100019
RGD:1598398
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Ifng
interferon gamma
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Ifngr1
interferon gamma receptor 1
ISO
ClinVar Annotator: match by term: Helicobacter pylori infection, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:10192386 PMID:11583830 PMID:12516030 PMID:16690980 PMID:18171304 PMID:19488747 PMID:20015550 PMID:25741868 PMID:28492532 PMID:28902581 More...
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
G
Il1b
interleukin 1 beta
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il21
interleukin 21
ISO
mRNA, protein:increased expression:mucosa of stomach (human)
RGD
PMID:17442980 PMID:31383743
RGD:127285542 , RGD:127285544
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
G
Il33
interleukin 33
severity
ISO
associated with Helicobacter Infections;DNA:SNP: : rs1929992(human) mRNA:increased expression:stomach
RGD
PMID:31491552 PMID:31320834
RGD:39938849 , RGD:39939030
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
G
Il6
interleukin 6
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Lcn2
lipocalin 2
ISO
protein:increased expression:gastric mucosa
RGD
PMID:19727808
RGD:126781713
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
G
Ltb4r
leukotriene B4 receptor
treatment
ISO
RGD
PMID:18571838
RGD:40903061
NCBI chr15:29,263,199...29,265,716
G
Mapk8
mitogen-activated protein kinase 8
ISO
protein:increased expression:pyloric antrum (human)
RGD
PMID:17643099
RGD:150340691
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
G
Mir155
microRNA 155
ISO
miRNA:increased expression:stomach
RGD
PMID:29250766 PMID:28560185
RGD:21408595 , RGD:25671377
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
G
Mir222
microRNA 222
ISO
associated with stomach cancer;RNA:increased expression:stomach:
RGD
PMID:29227536
RGD:151708731
NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human)
RGD
PMID:23183616 PMID:20957490
RGD:38501056 , RGD:38501057
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Muc6
mucin 6, oligomeric mucus/gel-forming
ISO
protein:increased expression:stomach epithelium
RGD
PMID:15280409
RGD:7364760
NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
G
Myd88
MYD88, innate immune signal transduction adaptor
ISO
RGD
PMID:28201999
RGD:150519916
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
G
Pdcd1
programmed cell death 1
severity
ISO
RGD
PMID:21562113
RGD:40818417
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
G
Prkaa1
protein kinase AMP-activated catalytic subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
G
Psca
prostate stem cell antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chr 7:106,598,203...106,603,114
Ensembl chr 7:106,595,284...106,609,746
G
Pten
phosphatase and tensin homolog
ISO
associated with gastritis;protein:increased phosphorylation:stomach (human)
RGD
PMID:26376616
RGD:127285599
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
susceptibility
ISO
DNA:SNP:intron: rs2301756(human)
RGD
PMID:19589142
RGD:39128247
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
G
Ptprz1
protein tyrosine phosphatase, receptor type Z1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17030583
NCBI chr 4:51,397,316...51,595,220
Ensembl chr 4:51,397,601...51,595,218
G
RT1-Ba
RT1 class II, locus Ba
resistance
ISO
associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:11860411
RGD:2301818
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
associated with Purpura, Thrombocytopenic, Idiopathic;DNA:polymorphisms (human) DNA:polymorphisms: :HLA-DQB1*301, HLA-DQB1*04(human)
RGD
PMID:16011982 PMID:15833172
RGD:5147649 , RGD:36049761
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
associated with Purpura, Thrombocytopenic, Idiopathic;DNA:polymorphisms (human) DNA:polymorphisms: :HLA-DRB1*11, HLA-DRB1*12(human)
RGD
PMID:16011982 PMID:15833172
RGD:5147649 , RGD:36049761
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Socs3
suppressor of cytokine signaling 3
IEP
mRNA, protein:increased expression
RGD
PMID:17405912
RGD:1625683
NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
G
Tff1
trefoil factor 1
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
G
Tff2
trefoil factor 2
disease_progression
ISO
protein:increased expression:stomach epithelium mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:15280409 PMID:29085807
RGD:7364760 , RGD:38549349
NCBI chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619
G
Tff3
trefoil factor 3
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
G
Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16733738 PMID:17163184
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
G
Vip
vasoactive intestinal peptide
ISO
protein:increased expression:spinal cord, stomach
RGD
PMID:19906107
RGD:5685602
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
G
Apoe
apolipoprotein E
susceptibility
ISO
DNA:polymorphism:exon:
RGD
PMID:11118260
RGD:7771554
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Aqp4
aquaporin 4
ISO
RGD
PMID:17454447
RGD:8698664
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
G
Calca
calcitonin-related polypeptide alpha
treatment
IDA
RGD
PMID:22761571
RGD:7240516
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
G
Calcr
calcitonin receptor
treatment
IDA
RGD
PMID:22761571
RGD:7240516
NCBI chr 4:31,661,270...31,736,392
Ensembl chr 4:31,661,273...31,736,392
G
Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:22377584
RGD:8661752
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
G
Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:23391218
RGD:8551839
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:22377584
RGD:8661752
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
G
Gdnf
glial cell derived neurotrophic factor
ISO
mRNA:increased expression:brain:
RGD
PMID:15950786
RGD:8657070
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
G
Il1rl1
interleukin 1 receptor-like 1
severity
ISO
RGD
PMID:26872602
RGD:39939003
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
G
Irf3
interferon regulatory factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:95,479,966...95,484,926
Ensembl chr 1:95,479,821...95,484,935
G
Lta
lymphotoxin alpha
ISO
RGD
PMID:11145686
RGD:8548806
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
G
Mmp2
matrix metallopeptidase 2
ISO
protein:increased activity:brain
RGD
PMID:15364410
RGD:8547868
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mmp9
matrix metallopeptidase 9
treatment
ISO
protein:increased activity:brain
RGD
PMID:20483026 PMID:15364410
RGD:8547867 , RGD:8547868
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
RGD
PMID:17266445
RGD:8661706
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
G
Ticam1
TIR domain containing adaptor molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:1,102,559...1,111,023
Ensembl chr 9:1,102,366...1,123,147
G
Tlr2
toll-like receptor 2
disease_progression
ISO IEP
RGD
PMID:14739339 PMID:20806060
RGD:8553026 , RGD:5130178
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr3
toll-like receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
G
Tlr4
toll-like receptor 4
IEP
RGD
PMID:20806060
RGD:5130178
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tlr9
toll-like receptor 9
resistance
IEP
mRNA:increased expression:cheek (rat)
RGD
PMID:20806060
RGD:5130178
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
G
Traf3
Tnf receptor-associated factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481
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Unc93b1
unc-93 homolog B1, TLR signaling regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:201,167,388...201,178,343
Ensembl chr 1:201,152,693...201,178,338
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Ankrd37
ankyrin repeat domain 37
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,268,933...46,271,971
Ensembl chr16:46,268,443...46,271,963
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Ccdc110
coiled-coil domain containing 110
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,315,745...46,337,050
Ensembl chr16:46,315,745...46,337,021
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Cfap96
cilia and flagella associated protein 96
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
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Cfap97
cilia and flagella associated protein 97
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,086,104...46,135,194
Ensembl chr16:46,086,111...46,125,933
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Cyp4v3
cytochrome P450, family 4, subfamily v, polypeptide 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395
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F11
coagulation factor XI
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,987,988...47,009,015
Ensembl chr16:46,986,107...47,008,437
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Fam149a
family with sequence similarity 149, member A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,855,377...46,914,553
Ensembl chr16:46,854,635...46,912,066
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Fat1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Klkb1
kallikrein B1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
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Lrp2bp
Lrp2 binding protein
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,241,554...46,269,221
Ensembl chr16:46,243,430...46,269,642
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Mtnr1a
melatonin receptor 1A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:47,144,461...47,163,919
Ensembl chr16:47,144,461...47,163,919
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Pdlim3
PDZ and LIM domain 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,352,460...46,383,680
Ensembl chr16:46,352,467...46,383,657
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Slc25a4
solute carrier family 25 member 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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Snx25
sorting nexin 25
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,134,552...46,238,471
Ensembl chr16:46,125,804...46,238,440
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Sorbs2
sorbin and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,435,220...46,748,743
Ensembl chr16:46,435,237...46,626,514
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Tlr3
toll-like receptor 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis 1 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:9536098 PMID:15042513 PMID:17434873 PMID:17576681 PMID:17872438 PMID:19625408 PMID:19763152 PMID:20307669 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:22406018 PMID:24033266 PMID:25118264 PMID:25339207 PMID:25629076 PMID:25741868 PMID:26193622 PMID:26513235 PMID:27872624 PMID:28046022 PMID:28368532 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:31268141 PMID:32936395 PMID:33174085 PMID:34813006 More...
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Ufsp2
UFM1-specific peptidase 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
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Unc93b1
unc-93 homolog B1, TLR signaling regulator
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
OMIM ClinVar
PMID:9536098 PMID:16973841 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 1:201,167,388...201,178,343
Ensembl chr 1:201,152,693...201,178,338
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Amn
amnion associated transmembrane protein
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
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Traf3
Tnf receptor-associated factor 3
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 | ClinVar Annotator: match by term: TRAF3 haploinsufficiency | ClinVar Annotator: match by term: TRAF3-related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31681265 PMID:35960817 PMID:36004314 More...
NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481
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Ticam1
TIR domain containing adaptor molecule 1
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 4
OMIM ClinVar
PMID:22105173 PMID:24033266 PMID:25741868 PMID:26513235 PMID:28492532
NCBI chr 9:1,102,559...1,111,023
Ensembl chr 9:1,102,366...1,123,147
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Irf3
interferon regulatory factor 3
susceptibility
ISO
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7
OMIM ClinVar
PMID:25741868 PMID:26216125 PMID:26513235 PMID:28492532
NCBI chr 1:95,479,966...95,484,926
Ensembl chr 1:95,479,821...95,484,935
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Cd163
CD163 molecule
ISO
protein:increased expression:dermis (human)
RGD
PMID:29603182
RGD:127285799
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Gjb2
gap junction protein, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16172043
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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Il17d
interleukin 17D
sexual_dimorphism
ISO
mRNA:increased expression:apocrine gland (human)
RGD
PMID:32031713
RGD:40903066
NCBI chr15:31,671,337...31,688,833
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Lcn2
lipocalin 2
disease_progression
ISO
RGD
PMID:28256718
RGD:126781708
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Mefv
MEFV innate immunity regulator, pyrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
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Tnf
tumor necrosis factor
ISO
DNA:polymorphism,haplotype:promoter:-238G>A(human)
RGD
PMID:23106544
RGD:7777155
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Cd274
CD274 molecule
ISO
protein:increased expression:macrophage, dendritic cell, lymphocyte, splenocytes,
RGD
PMID:18268348
RGD:40822806
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Il17a
interleukin 17A
ISO
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:19469707
RGD:9068939
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:18268348
RGD:40822806
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Pdcd1lg2
programmed cell death 1 ligand 2
ISO
protein:increased expression:macrophage, dendritic cell
RGD
PMID:18268348
RGD:40822806
NCBI chr 1:227,158,941...227,223,938
Ensembl chr 1:227,158,941...227,223,938
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RT1-CE13
RT1 class I, locus CE13
ISO
Presumed Ocular Histoplasmosis Syndrome; DNA:polymorphisms:cds:HLA-B7 (human)
RGD
PMID:14522093
RGD:7364917
NCBI chr20:3,314,830...3,318,106
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App
amyloid beta precursor protein
ISO
RGD
PMID:29632166
RGD:13782045
NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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Bace1
beta-secretase 1
ISO
RGD
PMID:29632166
RGD:13782045
NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
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Cd68
Cd68 molecule
ISO
protein:increased expression:brain (human)
RGD
PMID:15488024
RGD:40925943
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Cdk5
cyclin-dependent kinase 5
IDA
protein:increased tyrosine phosphorylation:hippocampus
RGD
PMID:28107387
RGD:13506927
NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112
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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 chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
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Olig2
oligodendrocyte transcription factor 2
ISO
RGD
PMID:15579294
RGD:40902823
NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17209195
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Aph1b
aph-1 homolog B, gamma secretase subunit
susceptibility
ISO
DNA:SNP:CDS:p.F217L (rs1047552) (human)
RGD
PMID:19774691
RGD:13703126
NCBI chr 8:67,429,198...67,454,735
Ensembl chr 8:67,429,198...67,450,243
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Clec4m
C-type lectin domain family 4 member M
susceptibility
ISO
DNA:repeats:exon 4 DNA:repeat:
RGD
PMID:25656622 PMID:20217198 PMID:16453266
RGD:11520989 , RGD:39938989 , RGD:39938979
NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
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Klrk1
killer cell lectin like receptor K1
ISO
protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD
PMID:27091211
RGD:40818300
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Ncr1
natural cytotoxicity triggering receptor 1
treatment
ISO
protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:18724804 PMID:27091211
RGD:40818277 , RGD:40818300
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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Nefl
neurofilament light chain
treatment
ISO
RGD
PMID:30105502
RGD:127284876
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphism (human)
RGD
PMID:20224785
RGD:5147578
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:12876073
RGD:8694470
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adrb3
adrenoceptor beta 3
ISO
DNA:missense mutation:cds:p.W64R rs4994 (human)
RGD
PMID:10930169
RGD:5684895
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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Il18
interleukin 18
susceptibility
ISO
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
RGD
PMID:20331838 PMID:15353983
RGD:8655915 , RGD:8655934
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Lmna
lamin A/C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18230615
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Mmp1
matrix metallopeptidase 1
ISO
DNA:SNP
RGD
PMID:20852404
RGD:8549721
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Zmpste24
zinc metallopeptidase STE24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18230615
NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
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Abcb1a
ATP binding cassette subfamily B member 1A
treatment severity
IEP ISO
mRNA:altered expression:brain, heart, kidney (rat) DNA:SNPs: :4036A>G, 1236C>T (human)
RGD
PMID:24472536 PMID:23133441 PMID:27334660
RGD:11041168 , RGD:39456100 , RGD:39456096
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abcb1b
ATP-binding cassette, sub-family B member 1B
IDA IEP
mRNA:decreased expression, increased expression:brain, kidney (rat)
RGD
PMID:16790532 PMID:24472536
RGD:1598562 , RGD:11041168
NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199
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Abce1
ATP binding cassette subfamily E member 1
ISO
DNA:mutations:multiple (human)
RGD
PMID:19657357
RGD:11041871
NCBI chr19:28,205,566...28,230,489
Ensembl chr19:28,205,555...28,230,489
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Adrb2
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Aicda
activation-induced cytidine deaminase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:30219203
RGD:127285639
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16903978
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Alyref
Aly/REF export factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:105,871,424...105,875,076
Ensembl chr10:105,871,306...105,875,069
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Apoa1
apolipoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12646808
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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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 chr18:29,806,214...29,834,217
Ensembl chr18:29,807,536...29,833,555
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Arhgap4
Rho GTPase activating protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
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Arhgdia
Rho GDP dissociation inhibitor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023
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Arhgdib
Rho GDP dissociation inhibitor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 4:169,822,951...169,841,884
Ensembl chr 4:169,822,952...169,841,658
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Atm
ATM serine/threonine kinase
ISO
protein:decreased expression:T cell (human)
RGD
PMID:31781094
RGD:126790561
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Bag3
BAG cochaperone 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17187345
NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
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Bax
BCL2 associated X, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Birc2
baculoviral IAP repeat-containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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Birc3
baculoviral IAP repeat-containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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Bst2
bone marrow stromal cell antigen 2
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS
ClinVar
NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979
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C3
complement C3
ISO
RGD
PMID:7561187
RGD:11040775
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Ccl11
C-C motif chemokine ligand 11
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to CTD Direct Evidence: marker/mechanism protein:increased expression:plasma
ClinVar OMIM CTD RGD
PMID:14571188 PMID:27246604
RGD:14995461
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Ccl2
C-C motif chemokine ligand 2
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:14571188 PMID:27246604
RGD:14995461
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl3
C-C motif chemokine ligand 3
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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Ccl4
C-C motif chemokine ligand 4
susceptibility
ISO
RGD
PMID:16250882
RGD:5683897
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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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 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:10200305 PMID:12114533 PMID:12610055
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9252328 PMID:9662369 PMID:25741868
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr3
C-C motif chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10202824
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Ccr5
C-C motif chemokine receptor 5
susceptibility
ISO
protein:decreased expression:blood, T cell (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Human immunodeficiency virus type 1, increased perinatal transmission of | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
OMIM CTD ClinVar RGD
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 PMID:9140404 PMID:9207783 PMID:9399903 PMID:9433423 PMID:9466996 PMID:9511755 PMID:9585595 PMID:9600249 PMID:9742978 PMID:9768627 PMID:10520641 PMID:10559343 PMID:10615909 PMID:10803840 PMID:11081537 PMID:11369664 PMID:11403804 PMID:11403814 PMID:11517319 PMID:11781692 PMID:12610055 PMID:12815099 PMID:12874407 PMID:15744032 PMID:15863470 PMID:16216086 PMID:16248677 PMID:16418398 PMID:19017985 PMID:19073967 PMID:28492532 PMID:33116287 PMID:16379602 More...
RGD:4892094
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cct3
chaperonin containing TCP1 subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 2:173,765,701...173,790,353
Ensembl chr 2:173,765,698...173,790,757
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Cct5
chaperonin containing TCP1 subunit 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 2:82,591,750...82,602,903
Ensembl chr 2:82,590,630...82,602,930
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Cct7
chaperonin containing TCP1 subunit 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580
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Cd163
CD163 molecule
exacerbates treatment
ISO
protein:increased expression:blood plasma (human)
RGD
PMID:23916293 PMID:24594990
RGD:127285682 , RGD:149735575
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd209d
CD209d molecule
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD OMIM ClinVar
PMID:15564514 PMID:15838506 PMID:16379498 PMID:25741868
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Cd274
CD274 molecule
ISO
RGD
PMID:30161254 PMID:30236481
RGD:41412179 , RGD:41412181
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Cd28
Cd28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7492435
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cd40
CD40 molecule
ISO
protein:increased expression:plasmacytoid dendritic cell
RGD
PMID:20559432
RGD:5490533
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
ISO
RGD
PMID:21177803
RGD:5490598
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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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 chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Cd8a
CD8 subunit alpha
treatment
ISO
RGD
PMID:29384862
RGD:124715453
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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Cdc42
cell division cycle 42
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Clic1
chloride intracellular channel 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712
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Cops6
COP9 signalosome subunit 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr12:17,038,979...17,041,818
Ensembl chr12:17,038,979...17,046,371
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Cr2
complement C3d receptor 2
ISO
protein:decreased expression:B cell
RGD
PMID:8442917
RGD:127338249
NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
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Crp
C-reactive protein
disease_progression
ISO
RGD
PMID:22448211
RGD:6482303
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:plasma
RGD
PMID:27246604
RGD:14995461
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl12
C-X-C motif chemokine ligand 12
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
OMIM CTD ClinVar
PMID:9430590 PMID:25741868
NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
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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 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:25741868
NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084
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Cyp2b3
cytochrome P450, family 2, subfamily b, polypeptide 3
treatment
ISO
DNA:haplotype: :CYP2B6*6(human) DNA:SNPs: :516G>T,983T>C (human)
RGD
PMID:21862974 PMID:18281305
RGD:11098366 , RGD:11097175
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
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Ddx1
DEAD-box helicase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24183723
NCBI chr 6:35,996,469...36,027,340
Ensembl chr 6:35,996,469...36,027,365
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Ddx3x
DEAD-box helicase 3, X-linked
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24183723
NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
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Dnajc7
DnaJ heat shock protein family (Hsp40) member C7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:85,518,637...85,555,079
Ensembl chr10:85,518,621...85,555,575
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Eif3b
eukaryotic translation initiation factor 3, subunit B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr12:14,196,403...14,220,865
Ensembl chr12:14,196,403...14,220,886
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Eif4a1
eukaryotic translation initiation factor 4A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:54,384,345...54,389,855
Ensembl chr10:54,384,347...54,389,858
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Eif4ebp1
eukaryotic translation initiation factor 4E binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984
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Eif6
eukaryotic translation initiation factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 3:144,325,038...144,331,396
Ensembl chr 3:144,325,036...144,331,401
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Emg1
EMG1 N1-specific pseudouridine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540
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Ephb2
Eph receptor B2
ISO
mRNA:decreased expression:Anterior cingulate
RGD
PMID:23314923
RGD:127285026
NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
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Fas
Fas cell surface death receptor
ISO
RGD
PMID:10200468
RGD:11049451
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fcer2
Fc epsilon receptor II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11500085
NCBI chr12:1,742,809...1,754,476
Ensembl chr12:1,742,815...1,754,476
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Fcgr3a
Fc gamma receptor 3A
susceptibility
ISO
DNA:polymorphism:exon:p.F158V(rs396991)(human)
RGD
PMID:21187939
RGD:5508390
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Gadd45a
growth arrest and DNA-damage-inducible, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 4:96,154,789...96,157,091
Ensembl chr 4:96,154,789...96,157,115
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Gc
GC, vitamin D binding protein
disease_progression
ISO
RGD
PMID:2883392
RGD:5509934
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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Grpel1
GrpE-like 1, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr14:74,292,023...74,298,243
Ensembl chr14:74,292,023...74,298,200
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Gtf3a
general transcription factor III A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr12:8,136,746...8,144,690
Ensembl chr12:8,136,747...8,144,690
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Hdgf
heparin binding growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 2:173,370,147...173,379,756
Ensembl chr 2:173,370,465...173,379,747
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Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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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 chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
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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 chr 9:15,432,986...15,438,358
Ensembl chr 9:15,433,691...15,438,488
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Hspa9
heat shock protein family A (Hsp70) member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
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Hspb1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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Hspd1
heat shock protein family D (Hsp60) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Hsph1
heat shock protein family H (Hsp110) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr12:5,390,916...5,410,224
Ensembl chr12:5,390,922...5,410,224
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
PMID:10202824
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
treatment
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:10202824 PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 PMID:10666520 More...
RGD:7365087
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il15
interleukin 15
ISO
protein:decreased expression:plasma
RGD
PMID:20028198
RGD:4892672
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Il17d
interleukin 17D
severity
ISO
Protein:increased expression:blood plasma (human)
RGD
PMID:28592538
RGD:40903074
NCBI chr15:31,671,337...31,688,833
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Il18
interleukin 18
treatment
ISO
protein:increased expression:serum: associated with hepatitis C; protein:increased expression:serum:
RGD
PMID:27927859 PMID:27927859
RGD:14696653 , RGD:14696653
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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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 chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il21
interleukin 21
ISO
associated with hepatitis B;protein:decreased expression:blood serum (human)
RGD
PMID:22948268
RGD:127285366
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:22530560
RGD:6892924
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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Il27
interleukin 27
ameliorates
ISO
protein:increased expression:blood plasma (human) associated with hepatitis C;protein:increased expression:blood plasma (human)
RGD
PMID:28338007 PMID:24816922
RGD:126790518 , RGD:126790553
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Il2ra
interleukin 2 receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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Il6
interleukin 6
ISO
protein:increased expression:serum
RGD
PMID:1768380
RGD:10449449
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Ilf2
interleukin enhancer binding factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 2:175,952,174...175,971,191
Ensembl chr 2:175,952,186...175,971,337
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Ipo7
importin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:164,062,702...164,102,938
Ensembl chr 1:164,062,702...164,102,938
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Kir3dl1
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
susceptibility
ISO
DNA:deletion:cds CTD Direct Evidence: marker/mechanism
OMIM CTD RGD
PMID:17496894 PMID:31863692
RGD:38676444
NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050
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Kmt2e
lysine methyltransferase 2E
ISO
protein:increased expression:peripheral blood, T cell, CD4+ (human)
RGD
PMID:16046540
RGD:9588555
NCBI chr 4:11,658,218...11,727,373
Ensembl chr 4:11,658,979...11,727,373
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Kpnb1
karyopherin subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:82,145,662...82,174,437
Ensembl chr10:82,145,420...82,174,605
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Lck
LCK proto-oncogene, Src family tyrosine kinase
IDA
protein:increased tyrosine phosphorylation:T cell
RGD
PMID:16828835
RGD:1600221
NCBI chr 5:141,888,318...141,916,945
Ensembl chr 5:141,888,326...141,903,794
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Lepr
leptin receptor
ISO
protein:increased phosphorylation:peripheral blood mononuclear cell
RGD
PMID:12100031
RGD:21079471
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Lyn
LYN proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 5:16,639,512...16,755,501
Ensembl chr 5:16,639,466...16,756,868
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Map2
microtubule-associated protein 2
ISO
RGD
PMID:19966940
RGD:6483319
NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
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Maz
MYC associated zinc finger protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408
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Mbl2
mannose binding lectin 2
no_association severity
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism:exon:
CTD RGD
PMID:16960176 PMID:26348711 PMID:19796822
RGD:12910931 , RGD:12910857
NCBI chr 1:228,016,439...228,024,736
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Mdm2
MDM2 proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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Mki67
marker of proliferation Ki-67
ISO
RGD
PMID:21576701
RGD:6483531
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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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 chr16:18,252,227...18,257,111
Ensembl chr16:18,252,222...18,257,539
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Myh9
myosin, heavy chain 9
ISO
protein:decreased expression:glomerulus
RGD
PMID:22313957
RGD:6903274
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Nefl
neurofilament light chain
treatment
ISO
RGD
PMID:30005007
RGD:127285390
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Nefm
neurofilament medium chain
ISO
protein:increased serine/threonine phosphorylation:brain
RGD
PMID:26033855
RGD:40886309
NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755
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Nup88
nucleoporin 88
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:55,667,903...55,692,249
Ensembl chr10:55,667,906...55,692,257
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Nutf2
nuclear transport factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr19:33,752,319...33,773,595
Ensembl chr19:33,752,291...33,773,591
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Odc1
ornithine decarboxylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 6:40,329,831...40,336,444
Ensembl chr 6:40,329,964...40,336,440
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Ogg1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29709520
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Oprm1
opioid receptor, mu 1
IEP
mRNA:increased expression:macrophage
RGD
PMID:17553897
RGD:2316609
NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
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Pdcd1
programmed cell death 1
ISO
RGD
PMID:30161254
RGD:41412179
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Pla2g2a
phospholipase A2 group IIA
ISO
RGD
PMID:18096355
RGD:6482728
NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
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Plaur
plasminogen activator, urokinase receptor
disease_progression
ISO
protein:increased expression:plasma
RGD
PMID:21384094 PMID:20229356
RGD:6484120 , RGD:6484128
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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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 chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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Ppib
peptidylprolyl isomerase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 8:66,603,877...66,609,734
Ensembl chr 8:66,603,861...66,630,428
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Prf1
perforin 1
ISO
DNA:SNP: :rs885822 (human)
RGD
PMID:20523897 PMID:21157294
RGD:6482808 , RGD:6482819
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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Prpf8
pre-mRNA processing factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:60,331,494...60,354,606
Ensembl chr10:60,331,494...60,354,606
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Psma4
proteasome 20S subunit alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 8:55,340,431...55,347,893
Ensembl chr 8:55,340,386...55,347,890
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Psma5
proteasome 20S subunit alpha 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 2:195,896,369...195,919,733
Ensembl chr 2:195,896,365...195,919,731
G
Psma6
proteasome 20S subunit alpha 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 6:72,765,534...72,796,554
Ensembl chr 6:72,765,473...72,796,554
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Psmb10
proteasome 20S subunit beta 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr19:33,830,958...33,833,442
Ensembl chr19:33,827,229...33,833,626
G
Psmb4
proteasome 20S subunit beta 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746
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Psmc3
proteasome 26S subunit, ATPase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358
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Psmc5
proteasome 26S subunit, ATPase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:91,187,763...91,193,697
Ensembl chr10:91,187,743...91,213,135
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Psmd13
proteasome 26S subunit, non-ATPase 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:195,964,617...195,976,895
Ensembl chr 1:195,964,138...195,976,905
G
Psmd3
proteasome 26S subunit, non-ATPase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:83,643,473...83,655,620
Ensembl chr10:83,643,647...83,655,618
G
Psmd6
proteasome 26S subunit, non-ATPase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr15:11,102,174...11,112,180
Ensembl chr15:11,102,180...11,205,620
G
Psmd8
proteasome 26S subunit, non-ATPase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:84,474,377...84,481,209
Ensembl chr 1:84,474,378...84,481,209
G
Psme1
proteasome activator subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890
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Psme2
proteasome activator subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946
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Psme3
proteasome activator subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:86,257,672...86,265,458
Ensembl chr10:86,257,668...86,333,804
G
Psme4
proteasome activator subunit 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr14:104,505,716...104,609,410
Ensembl chr14:104,505,716...104,609,408
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Ptch1
patched 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Ptgs2
prostaglandin-endoperoxide synthase 2
IEP
mRNA, protein:increased expression:brain
RGD
PMID:21846384
RGD:5508195
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Rab11b
RAB11B, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 7:14,521,448...14,534,589
Ensembl chr 7:14,521,368...14,534,593
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Rab32
RAB32, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934
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Ran
RAN, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr12:27,674,049...27,678,598
Ensembl chr12:27,674,050...27,678,276
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Ranbp1
RAN binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
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RT1-Ba
RT1 class II, locus Ba
ISO
DNA:polymorphisms (human)
RGD
PMID:18427198
RGD:5147817
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms: :multiple (human) DNA:polymorphisms (human)
RGD
PMID:20345872 PMID:18427198
RGD:5147659 , RGD:5147817
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
RT1-Da
RT1 class II, locus Da
ISO
RGD
PMID:21427211
RGD:5490157
NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
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RT1-Db1
RT1 class II, locus Db1
disease_progression susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism:cds:HLA-DRB1*08, HLA-B*35, HLA-C*04 (human) DNA:polymorphisms: :multiple (human)
RGD
PMID:28244954 PMID:21257739 PMID:20345872
RGD:40903000 , RGD:5147591 , RGD:5147659
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Selp
selectin P
ISO
RGD
PMID:22156911
RGD:6218986
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
G
Serpina1
serpin family A member 1
susceptibility
ISO
CTD Direct Evidence: therapeutic DNA:polymorphism:cds:p.Glu264Val(human)
CTD RGD
PMID:17448989 PMID:24122823
RGD:14695057
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
G
Sf3a3
splicing factor 3a, subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 5:136,967,713...136,987,345
Ensembl chr 5:136,967,691...136,987,361
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Sfpq
splicing factor proline and glutamine rich
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 5:139,338,034...139,353,476
Ensembl chr 5:139,338,075...139,353,472
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Sigmar1
sigma non-opioid intracellular receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16204638
NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
G
Sirt1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19720090
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Slc11a1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Snrpd3
small nuclear ribonucleoprotein D3 polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr20:13,130,112...13,145,947
Ensembl chr20:13,130,119...13,145,978
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Socs1
suppressor of cytokine signaling 1
ISO
mRNA:decreased expression:uterine cervix
RGD
PMID:16878360
RGD:2298904
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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Socs3
suppressor of cytokine signaling 3
ISO
mRNA:decreased expression:uterine cervix
RGD
PMID:16878360
RGD:2298904
NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
G
Srf
serum response factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733
G
Srsf1
serine and arginine rich splicing factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
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Srsf9
serine and arginine rich splicing factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr12:41,278,225...41,284,502
Ensembl chr12:41,275,687...41,284,499
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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 chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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Taf9
TATA-box binding protein associated factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 2:31,794,316...31,798,324
Ensembl chr 2:31,794,142...31,798,769
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Tlr3
toll-like receptor 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD 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 chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:1768380
RGD:10449449
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8811349
NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
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Trem1
triggering receptor expressed on myeloid cells 1
ISO
mRNA,protein:increased expression:peripheral blood mononuclear cell, macrophage, plasma
RGD
PMID:31260499
RGD:126925971
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Trim5
tripartite motif-containing 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15249687
NCBI chr 1:158,720,407...158,737,393
Ensembl chr 1:158,720,410...158,814,012
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U2af1
U2 small nuclear RNA auxiliary factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
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Vdr
vitamin D receptor
ISO
DNA:SNPs:3' UTR (human)
RGD
PMID:18712587
RGD:4889839
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
G
Yy1
YY1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747
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Adam33
ADAM metallopeptidase domain 33
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:118,262,395...118,283,456
Ensembl chr 3:118,271,029...118,283,461
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Adissp
adipose secreted signaling protein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:118,364,730...118,378,881
Ensembl chr 3:118,362,363...118,378,838
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Adra1d
adrenoceptor alpha 1D
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:118,793,356...118,809,354
Ensembl chr 3:118,793,346...118,809,354
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Ap5s1
adaptor related protein complex 5 subunit sigma 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:118,429,618...118,432,929
Ensembl chr 3:118,429,637...118,432,926
G
Atrn
attractin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:118,110,320...118,244,326
Ensembl chr 3:118,110,229...118,244,322
G
Avp
arginine vasopressin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
G
Bmp2
bone morphogenetic protein 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
G
Cdc25b
cell division cycle 25B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:118,407,127...118,417,272
Ensembl chr 3:118,407,128...118,417,272
G
Cds2
CDP-diacylglycerol synthase 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:119,514,963...119,553,555
Ensembl chr 3:119,515,000...119,553,541
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Cenpb
centromere protein B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:118,396,987...118,399,780
Ensembl chr 3:118,388,546...118,400,470
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Chgb
chromogranin B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:120,043,824...120,057,169
Ensembl chr 3:120,043,738...120,057,166
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Cpxm1
carboxypeptidase X (M14 family), member 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,588,532...117,595,330
Ensembl chr 3:117,588,532...117,595,330
G
Crls1
cardiolipin synthase 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:120,119,822...120,138,674
Ensembl chr 3:120,119,852...120,138,655
G
Ddrgk1
DDRGK domain containing 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,861,916...117,882,680
Ensembl chr 3:117,861,653...117,882,680
G
Dnaaf9
dynein axonemal assembly factor 9
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,918,047...118,052,641
Ensembl chr 3:117,921,620...118,052,630
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Ebf4
EBF family member 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,498,186...117,566,566
Ensembl chr 3:117,498,319...117,566,566
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Fastkd5
FAST kinase domains 5
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,830,219...117,847,707
Ensembl chr 3:117,830,083...117,847,820
G
Fermt1
FERM domain containing kindlin 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:120,171,301...120,213,555
Ensembl chr 3:120,171,561...120,213,555
G
Gfra4
GDNF family receptor alpha 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:118,254,937...118,262,252
Ensembl chr 3:118,255,402...118,258,329
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Gpcpd1
glycerophosphocholine phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:119,787,681...119,832,550
Ensembl chr 3:119,787,682...119,832,517
G
Hspa12b
heat shock protein family A (Hsp70) member 12B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:118,346,372...118,364,374
Ensembl chr 3:118,346,354...118,364,737
G
Idh3b
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,481,845...117,486,909
Ensembl chr 3:117,481,845...117,486,982
G
Itpa
inosine triphosphatase
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
G
Lrrn4
leucine rich repeat neuronal 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:120,138,093...120,150,877
Ensembl chr 3:120,139,410...120,150,831
G
Lzts3
leucine zipper tumor suppressor family member 3
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,850,286...117,861,132
Ensembl chr 3:117,851,702...117,860,081
G
Mavs
mitochondrial antiviral signaling protein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:118,451,650...118,466,094
Ensembl chr 3:118,451,743...118,466,094
G
Mcm8
minichromosome maintenance 8 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:120,086,741...120,117,008
Ensembl chr 3:120,086,763...120,117,008
G
Mir103a2
microRNA 103a-2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:118,510,194...118,510,279
Ensembl chr 3:118,510,194...118,510,279
G
Mrps26
mitochondrial ribosomal protein S26
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,769,220...117,770,883
Ensembl chr 3:117,769,100...117,770,885
G
Nop56
NOP56 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,476,963...117,481,847
Ensembl chr 3:117,477,053...117,481,841
G
Oxt
oxytocin/neurophysin I prepropeptide
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490
G
Pank2
pantothenate kinase 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320
G
Pced1a
PC-esterase domain containing 1A
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,600,958...117,622,992
Ensembl chr 3:117,616,921...117,622,962
G
Pcna
proliferating cell nuclear antigen
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
G
Pdyn
prodynorphin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
G
Prnd
prion like protein doppel
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:119,213,462...119,218,742
Ensembl chr 3:119,213,429...119,218,745
G
Prnp
prion protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES
CTD ClinVar OMIM
PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 PMID:1404799 PMID:1439789 PMID:1469441 PMID:1671440 PMID:1672296 PMID:1674033 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1684755 PMID:1684758 PMID:1798423 PMID:1971924 PMID:1975028 PMID:2180366 PMID:2190844 PMID:2253724 PMID:2378641 PMID:2458274 PMID:2564168 PMID:2572450 PMID:2783132 PMID:2812321 PMID:7902693 PMID:7902971 PMID:7908444 PMID:7916462 PMID:7936296 PMID:7954833 PMID:7999318 PMID:8105682 PMID:8137139 PMID:8461023 PMID:8618678 PMID:8698234 PMID:8909447 PMID:8939199 PMID:9270595 PMID:9279329 PMID:9482303 PMID:9531435 PMID:9643750 PMID:9653185 PMID:9748018 PMID:9751723 PMID:9786248 PMID:9789072 PMID:9813003 PMID:10079068 PMID:10090891 PMID:10360778 PMID:10437852 PMID:10526198 PMID:10581230 PMID:10588836 PMID:10612329 PMID:10631141 PMID:10665501 PMID:10790216 PMID:10889050 PMID:10953203 PMID:10970892 PMID:10987652 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11568919 PMID:11709001 PMID:11749972 PMID:11756421 PMID:11756597 PMID:11839833 PMID:11840201 PMID:11967261 PMID:12172394 PMID:12372829 PMID:12420099 PMID:12451207 PMID:12590162 PMID:12601712 PMID:12690204 PMID:12813570 PMID:12815603 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14610121 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15366237 PMID:15539564 PMID:15557533 PMID:15739100 PMID:15753435 PMID:15776279 PMID:15967879 PMID:15987701 PMID:16025285 PMID:16187142 PMID:16217673 PMID:16227536 PMID:16313190 PMID:16314483 PMID:16315279 PMID:16369046 PMID:16380907 PMID:16391566 PMID:16533975 PMID:16565881 PMID:16914329 PMID:16939293 PMID:16969862 PMID:17013786 PMID:17029785 PMID:17494694 PMID:17666888 PMID:17851697 PMID:18425766 PMID:18455951 PMID:18478114 PMID:18955686 PMID:19422533 PMID:19422537 PMID:19543376 PMID:19680558 PMID:19696976 PMID:19703264 PMID:19923577 PMID:20038778 PMID:20139714 PMID:20301407 PMID:20514992 PMID:20541558 PMID:20583301 PMID:20592908 PMID:20593190 PMID:20697057 PMID:21107135 PMID:21269331 PMID:21298055 PMID:21416485 PMID:21552571 PMID:21616973 PMID:21791975 PMID:21839748 PMID:21904617 PMID:21909425 PMID:21983261 PMID:22072968 PMID:22097954 PMID:22108575 PMID:22318125 PMID:22488860 PMID:22561193 PMID:22584955 PMID:22717776 PMID:22947063 PMID:22965875 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23261545 PMID:23296137 PMID:23320809 PMID:23527023 PMID:23555862 PMID:23668481 PMID:23723004 PMID:23871665 PMID:24583440 PMID:24838726 PMID:24958194 PMID:25022973 PMID:25064618 PMID:25279981 PMID:25450391 PMID:25482600 PMID:25522698 PMID:25741868 PMID:25818675 PMID:25959220 PMID:26000326 PMID:26268049 PMID:26323476 PMID:26488179 PMID:26578040 PMID:26757195 PMID:26791950 PMID:27341347 PMID:27350609 PMID:27716661 PMID:27803826 PMID:28314738 PMID:28492532 PMID:29092967 PMID:29382530 PMID:29458424 PMID:29887139 PMID:31447551 PMID:32986314 PMID:34663460 PMID:35812092 More...
NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
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Prokr2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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Ptpra
protein tyrosine phosphatase, receptor type, A
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,650,146...117,759,744
Ensembl chr 3:117,650,183...117,759,728
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Rassf2
Ras association domain family member 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:119,244,288...119,280,462
Ensembl chr 3:119,245,821...119,280,431
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Rnf24
ring finger protein 24
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:118,520,459...118,575,213
Ensembl chr 3:118,525,349...118,541,080
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Shld1
shieldin complex subunit 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:119,938,695...120,011,068
Ensembl chr 3:119,938,833...120,009,550
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Siglec1
sialic acid binding Ig like lectin 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:118,287,988...118,307,125
Ensembl chr 3:118,287,988...118,306,850
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Slc23a2
solute carrier family 23 member 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:119,302,651...119,395,289
Ensembl chr 3:119,302,666...119,460,343
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Slc4a11
solute carrier family 4 member 11
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
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Smox
spermine oxidase
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:118,731,814...118,767,242
Ensembl chr 3:118,731,900...118,765,710
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Snrpb
small nuclear ribonucleoprotein polypeptides B and B1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339
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Spef1
sperm flagellar 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:118,390,659...118,396,842
Ensembl chr 3:118,390,575...118,394,531
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Stk35
serine/threonine kinase 35
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,016,819...117,049,131
Ensembl chr 3:117,016,950...117,048,066
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Tgm3
transglutaminase 3
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,228,661...117,264,078
Ensembl chr 3:117,228,661...117,264,075
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Tgm6
transglutaminase 6
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,324,268...117,355,674
Ensembl chr 3:117,321,489...117,354,734
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Tmc2
transmembrane channel-like 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,396,378...117,464,336
Ensembl chr 3:117,396,378...117,464,336
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Tmem230
transmembrane protein 230
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:119,473,109...119,497,617
Ensembl chr 3:119,480,735...119,497,614
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Tmem239
transmembrane 239
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,604,765...117,605,978
Ensembl chr 3:117,603,564...117,607,125
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Trmt6
tRNA methyltransferase 6 non-catalytic subunit
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:120,074,899...120,086,639
Ensembl chr 3:120,074,911...120,086,559
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Ubox5
U-box domain containing 5
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,806,212...117,847,711
Ensembl chr 3:117,807,092...117,847,722
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Vps16
VPS16 core subunit of CORVET and HOPS complexes
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 3:117,622,534...117,644,041
Ensembl chr 3:117,622,542...117,646,441
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Card9
caspase recruitment domain family, member 9
susceptibility
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:9835960 PMID:16199547 PMID:17576681 PMID:19864672 PMID:21983784 PMID:22730530 PMID:23335372 PMID:24033266 PMID:24068945 PMID:24131138 PMID:24231284 PMID:24704721 PMID:25702837 PMID:25731871 PMID:25741868 PMID:25933095 PMID:26038974 PMID:26521038 PMID:26679537 PMID:26961233 PMID:27490946 PMID:27777981 PMID:28252032 PMID:28492532 PMID:28842327 PMID:29080677 PMID:29307770 PMID:29890237 PMID:30136218 PMID:30429846 PMID:30537277 PMID:30809743 PMID:30837984 PMID:31102464 PMID:31414217 PMID:31469433 PMID:32888943 PMID:33414972 PMID:33558980 PMID:33872781 PMID:34234782 PMID:35628702 PMID:35727133 More...
NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
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Entr1
endosome associated trafficking regulator 1
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
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Inpp5e
inositol polyphosphate-5-phosphatase E
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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Pmpca
peptidase, mitochondrial processing subunit alpha
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
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Snapc4
small nuclear RNA activating complex, polypeptide 4
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
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Otulin
OTU deubiquitinase with linear linkage specificity
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 chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422
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Irf1
interferon regulatory factor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 117
OMIM ClinVar
NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
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Bclaf1
BCL2-associated transcription factor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 1:15,088,436...15,117,666
Ensembl chr 1:15,070,894...15,148,832
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Card11
caspase recruitment domain family, member 11
ISO
ClinVar Annotator: match by term: IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE
ClinVar
PMID:25741868
NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112
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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:16690980 PMID:18171304 PMID:18593809 PMID:19488747 PMID:19880337 PMID:19880857 PMID:20015550 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 chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
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Ifngr2
interferon gamma receptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005
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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 chr16:18,620,228...18,633,207
Ensembl chr16:18,620,770...18,632,769
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Il20ra
interleukin 20 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 1:14,424,215...14,494,226
Ensembl chr 1:14,451,228...14,493,602
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Il22ra2
interleukin 22 receptor subunit alpha 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 1:14,353,736...14,377,844
Ensembl chr 1:14,364,489...14,377,844
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Map3k5
mitogen-activated protein kinase kinase kinase 5
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800
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Map7
microtubule-associated protein 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 1:14,910,433...15,037,574
Ensembl chr 1:14,910,551...15,037,574
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Mtfr2
mitochondrial fission regulator 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 1:15,123,232...15,138,632
Ensembl chr 1:15,070,894...15,148,832
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Pde7b
phosphodiesterase 7B
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 1:15,174,001...15,493,267
Ensembl chr 1:15,182,704...15,492,900
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Pex7
peroxisomal biogenesis factor 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748
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Slc35d3
solute carrier family 35, member D3
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 1:14,565,482...14,573,581
Ensembl chr 1:14,569,687...14,573,159
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Ankar
ankyrin and armadillo repeat containing
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:48,141,534...48,215,400
Ensembl chr 9:48,141,391...48,215,616
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Asnsd1
asparagine synthetase domain containing 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:48,126,808...48,139,073
Ensembl chr 9:48,126,808...48,139,073
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C9h2orf88
similar to human chromosome 2 open reading frame 88
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:48,539,140...48,584,882
Ensembl chr 9:48,568,409...48,584,831
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Col3a1
collagen type III alpha 1 chain
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Col5a2
collagen type V alpha 2 chain
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:47,448,741...47,598,134
Ensembl chr 9:47,448,736...47,598,154
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Gls
glutaminase
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
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Hibch
3-hydroxyisobutyryl-CoA hydrolase
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824
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Inpp1
inositol polyphosphate-1-phosphatase
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:48,688,037...48,717,793
Ensembl chr 9:48,669,901...48,717,793
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Mfsd6
major facilitator superfamily domain containing 6
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:48,773,171...48,858,471
Ensembl chr 9:48,773,414...48,858,465
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Mstn
myostatin
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:48,452,533...48,458,933
Ensembl chr 9:48,452,533...48,458,933
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Nab1
Ngfi-A binding protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:49,053,579...49,093,078
Ensembl chr 9:49,053,758...49,092,098
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Nemp2
nuclear envelope integral membrane protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:48,861,252...48,880,565
Ensembl chr 9:48,861,252...48,880,512
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Ormdl1
ORMDL sphingolipid biosynthesis regulator 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:48,243,365...48,253,316
Ensembl chr 9:48,237,572...48,253,211
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Osgepl1
O-sialoglycoprotein endopeptidase-like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:48,214,995...48,229,440
Ensembl chr 9:48,215,402...48,229,388
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Pms1
PMS1 homolog 1, mismatch repair system component
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:48,229,403...48,340,237
Ensembl chr 9:48,253,410...48,340,237
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Slc40a1
solute carrier family 40 member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
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Stat1
signal transducer and activator of transcription 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B | ClinVar Annotator: match by term: Mycobacterial and viral infections, susceptibility to, autosomal recessive CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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:26621323 PMID:26732859 PMID:26743090 PMID:26938784 PMID:26948078 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:35126392 PMID:35960392 PMID:36336768 More...
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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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 chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Wdr75
WD repeat domain 75
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:47,903,214...47,933,399
Ensembl chr 9:47,903,200...47,933,399
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Il21r
interleukin 21 receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency 31C
ClinVar
PMID:25741868
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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Stat1
signal transducer and activator of transcription 1
ISO
ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:21714643 PMID:21727188 PMID:22195034 PMID:22730530 PMID:22847544 PMID:23245795 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24188975 PMID:24239102 PMID:24343863 PMID:25042743 PMID:25288569 PMID:25326637 PMID:25367169 PMID:25741868 PMID:26242301 PMID:26255980 PMID:26479788 PMID:26494717 PMID:26604104 PMID:26743090 PMID:27114460 PMID:27379765 PMID:27577878 PMID:28011069 PMID:28161409 PMID:28258222 PMID:28427548 PMID:28492532 PMID:28597685 PMID:28622416 PMID:28753426 PMID:28815025 PMID:30317461 PMID:30442829 PMID:31362757 PMID:31448411 PMID:32582194 PMID:33679782 More...
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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Abcd1
ATP binding cassette subfamily D member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
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Arhgap4
Rho GTPase activating protein 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
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Atp2b3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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Atp6ap1
ATPase H+ transporting accessory protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034
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Avpr2
arginine vasopressin receptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
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Bcap31
B-cell receptor-associated protein 31
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
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Bgn
biglycan
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
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Brcc3
BRCA1/BRCA2-containing complex subunit 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
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Ccnq
cyclin Q
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
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Clic2
chloride intracellular channel 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
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Cmc4
C-X9-C motif containing 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160
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Ctag2
cancer/testis antigen 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:143,531,907...143,533,201
Ensembl chr X:143,531,907...143,533,201
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Dkc1
dyskerin pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
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Dnase1l1
deoxyribonuclease 1-like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
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Dusp9
dual specificity phosphatase 9
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,351,897...151,355,822
Ensembl chr X:151,351,897...151,355,821
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Emd
emerin
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807
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F8
coagulation factor VIII
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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F8a1
coagulation factor VIII-associated 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:150,957,357...150,958,871
Ensembl chr X:150,916,679...150,960,168
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Fam3a
FAM3 metabolism regulating signaling molecule A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:152,166,716...152,175,327
Ensembl chr X:152,165,535...152,175,362
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Fam50a
family with sequence similarity 50, member A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Fundc2
FUN14 domain containing 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
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G6pd
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Gdi1
GDP dissociation inhibitor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
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H2ab3
H2A.B variant histone 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:82,362,531...82,363,105
Ensembl chr X:82,362,633...82,362,983
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Haus7
HAUS augmin-like complex, subunit 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,154,979...151,174,441
Ensembl chr X:151,154,979...151,180,577
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Hcfc1
host cell factor C1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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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 chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
ClinVar Annotator: match by term: Immunodeficiency 33 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11590134 PMID:15229184 PMID:16950813 PMID:18222329 PMID:25741868 PMID:28993958 PMID:30422821 PMID:31965418 PMID:33224153 More...
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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Il9r
interleukin 9 receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr10:15,431,706...15,444,144
Ensembl chr10:15,431,706...15,441,990
G
Irak1
interleukin-1 receptor-associated kinase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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L1cam
L1 cell adhesion molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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Lage3
L antigen family, member 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
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Mecp2
methyl CpG binding protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
G
Mpp1
MAGUK p55 scaffold protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
G
Mtcp1
mature T-cell proliferation 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr18:126,189...130,123
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Naa10
N(alpha)-acetyltransferase 10, NatA catalytic subunit
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
G
Opn1mw
opsin 1, medium wave sensitive
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
G
Pdzd4
PDZ domain containing 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
G
Plxna3
plexin A3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
G
Plxnb3
plexin B3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
G
Pnck
pregnancy up-regulated nonubiquitous CaM kinase
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446
G
Renbp
renin binding protein
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
G
Rpl10
ribosomal protein L10
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
G
Slc10a3
solute carrier family 10, member 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958
G
Slc6a8
solute carrier family 6 member 8
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
G
Spry3
sprouty RTK signaling antagonist 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr12:16,663,188...16,673,124
Ensembl chr12:16,663,389...16,672,531
G
Srpk3
SRSF protein kinase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
G
Ssr4
signal sequence receptor subunit 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
G
Tafazzin
tafazzin, phospholipid-lysophospholipid transacylase
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001
G
Tex28
testis expressed 28
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
G
Tktl1
transketolase-like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
G
Tmlhe
trimethyllysine hydroxylase, epsilon
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
G
Trex2
three prime repair exonuclease 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:151,151,862...151,153,470
Ensembl chr X:151,151,864...151,153,479
G
Ubl4a
ubiquitin-like 4A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:152,151,242...152,154,094
Ensembl chr X:152,151,460...152,154,069
G
Vamp7
vesicle-associated membrane protein 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr12:16,728,486...16,764,261
Ensembl chr12:16,728,524...16,764,097
G
Vbp1
VHL binding protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
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Cybb
cytochrome b-245 beta chain
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
OMIM CTD 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 chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
G
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 chr 5:166,501,150...166,515,477
Ensembl chr 5:166,500,781...166,515,481
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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 chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
G
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 chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
G
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 chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
G
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 chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212
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Atad3a
ATPase family, AAA domain containing 3A
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 chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
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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 chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
G
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 chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
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C5h1orf159
similar to human chromosome 1 open reading frame 159
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 chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
G
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 chr 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355
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 chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
G
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 chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
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 chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
G
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 chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
G
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 chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
G
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 chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
G
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 chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
G
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 chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
G
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 chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
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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 chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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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 chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
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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 chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
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Isg15
ISG15 ubiquitin-like modifier
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
OMIM CTD 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 chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
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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 chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925
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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 chr 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174
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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 chr 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139
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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 chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
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Mir200a
microRNA 200a
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 chr 5:166,648,494...166,648,582
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Mir200b
microRNA 200b
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 chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
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Mir429
microRNA 429
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 chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
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Mmel1
membrane metallo-endopeptidase-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 chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
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Mmp23
matrix metallopeptidase 23
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 chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
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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 chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
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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 chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
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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 chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
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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 chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
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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 chr 5:166,820,150...166,831,949
Ensembl chr 5:166,820,161...166,831,949
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Pank4
pantothenate kinase 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 chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
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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 chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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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 chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
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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 chr 5:166,805,309...166,813,339
Ensembl chr 5:166,804,837...166,813,155
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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 chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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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 chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
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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 chr 5:165,462,610...165,465,213
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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 chr 5:166,497,643...166,500,647
Ensembl chr 5:166,496,755...166,500,611
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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 chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
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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 chr 5:166,723,346...166,726,236
Ensembl chr 5:166,724,984...166,725,751
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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 chr 5:166,831,681...166,859,805
Ensembl chr 5:166,831,663...166,850,009
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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 chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
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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 chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
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Slc35e2b
solute carrier family 35, member E2B
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 chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
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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 chr 5:164,579,327...164,584,650
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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 chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
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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 chr 5:166,468,703...166,472,759
Ensembl chr 5:166,469,589...166,472,742
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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 chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
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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 chr 5:166,048,669...166,050,423
Ensembl chr 5:166,046,565...166,050,433
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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 chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
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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 chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
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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 chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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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 chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
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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 chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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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 chr 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425
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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 chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
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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 chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
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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 chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
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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 chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
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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 chr 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643
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Arvcf
ARVCF, delta catenin family member
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805
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Atp6v1e1
ATPase H+ transporting V1 subunit E1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:154,022,358...154,044,486
Ensembl chr 4:154,022,358...154,044,584
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Bcl2l13
Bcl2-like 13
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:154,056,116...154,112,890
Ensembl chr 4:154,056,127...154,108,985
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Bid
BH3 interacting domain death agonist
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:154,113,198...154,136,353
Ensembl chr 4:154,113,198...154,134,720
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C11h22orf39
similar to human chromosome 22 open reading frame 39
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
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Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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Cecr2
CECR2, histone acetyl-lysine reader
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:153,890,310...153,998,078
Ensembl chr 4:153,890,206...153,993,451
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Cldn5
claudin 5
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
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Comt
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Dgcr2
DiGeorge syndrome critical region gene 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502
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Dgcr6
DiGeorge syndrome critical region gene 6
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823
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Ess2
ess-2 splicing factor homolog
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846
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Gnb1l
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
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Gp1bb
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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Gsc2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126
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Hdhd5
haloacid dehalogenase like hydrolase domain containing 5
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:153,701,026...153,753,303
Ensembl chr 4:153,718,791...153,753,277
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Hira
histone cell cycle regulator
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
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Il17ra
interleukin 17 receptor A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 | ClinVar Annotator: match by term: Immunodeficiency 51
OMIM CTD ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 PMID:24552284 PMID:24552285 PMID:25741868 PMID:26607704 PMID:26871944 PMID:27930337 PMID:28492532 More...
NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
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Mical3
microtubule associated monooxygenase, calponin and LIM domain containing 3
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:154,152,776...154,353,274
Ensembl chr 4:154,153,834...154,302,590
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Mrpl40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233
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Pex26
peroxisomal biogenesis factor 26
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
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Prodh
proline dehydrogenase
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305
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Septin5
septin 5
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
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Slc25a1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
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Slc25a18
solute carrier family 25 member 18
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:154,000,808...154,021,373
Ensembl chr 4:154,000,990...154,021,372
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Tango2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
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Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Tmem121b
transmembrane protein 121B
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:153,695,191...153,700,104
Ensembl chr 4:153,698,194...153,699,912
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Tssk2
testis-specific serine kinase 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:83,086,578...83,087,933
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Tuba8
tubulin, alpha 8
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917
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Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
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Ufd1
ubiquitin recognition factor in ER associated degradation 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087
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Usp18
ubiquitin specific peptidase 18
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144
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Irak4
interleukin-1 receptor-associated kinase 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Immunodeficiency 67 | ClinVar Annotator: match by term: Invasive pneumococcal disease, recurrent isolated
OMIM CTD 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 chr 7:125,682,502...125,708,294
Ensembl chr 7:125,682,488...125,717,837
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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 chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432
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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 chr 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458
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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 chr 8:119,184,974...119,204,819
Ensembl chr 8:119,185,136...119,204,672
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
OMIM CTD 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 chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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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 chr 8:118,972,754...119,062,102
Ensembl chr 8:118,972,754...119,062,027
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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 chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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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 chr 8:118,922,367...118,934,020
Ensembl chr 8:118,922,367...118,953,635
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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 chr 8:118,894,537...118,916,416
Ensembl chr 8:118,895,259...118,908,255
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Xylb
xylulokinase
ISO
ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
ClinVar
PMID:28492532
NCBI chr 8:119,093,466...119,128,858
Ensembl chr 8:119,096,029...119,128,848
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Ifng
interferon gamma
ISO
ClinVar Annotator: match by term: Immunodeficiency 69
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:32163377
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Tlr3
toll-like receptor 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 83, susceptibility to viral infections
OMIM ClinVar
PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:24033266 PMID:25339207 PMID:25741868 PMID:26193622 PMID:26513235 PMID:28046022 PMID:28368532 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:31268141 PMID:32936395 PMID:33174085 PMID:34813006 More...
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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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 chr 3:114,149,337...114,193,408
Ensembl chr 3:114,151,069...114,193,264
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Tbx21
T-box transcription factor 21
ISO
ClinVar Annotator: match by term: Immunodeficiency 88
ClinVar OMIM
PMID:25741868
NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
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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 chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
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Cxcl10
C-X-C motif chemokine ligand 10
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl11
C-X-C motif chemokine ligand 11
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271
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Cxcl9
C-X-C motif chemokine ligand 9
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Ager
advanced glycosylation end product-specific receptor
ISO
RGD
PMID:21423669
RGD:5508765
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Ccl2
C-C motif chemokine ligand 2
severity
ISO
RGD
PMID:11160230
RGD:11528533
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:lung
RGD
PMID:20926800
RGD:7483599
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Ccr6
C-C motif chemokine receptor 6
disease_progression
ISO
RGD
PMID:17379855
RGD:7483617
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:17298426
RGD:5135501
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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Cybb
cytochrome b-245 beta chain
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
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Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment
ISO
DNA:polymorphisms:cds:
RGD
PMID:26861072
RGD:124713410
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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Elane
elastase, neutrophil expressed
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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Il17a
interleukin 17A
severity
ISO
RGD
PMID:21807912
RGD:8698654
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Mbl2
mannose binding lectin 2
ISO
DNA:SNP:exon:rs5030737(human)
RGD
PMID:17311505
RGD:8693758
NCBI chr 1:228,016,439...228,024,736
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Ptx3
pentraxin 3
severity
ISO
DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527 protein:increased expression:bronchoalveolar lavage fluid (human)
RGD
PMID:30275011 PMID:28487045
RGD:38501097 , RGD:38508892
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
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S100b
S100 calcium binding protein B
ISO
RGD
PMID:21423669
RGD:5508765
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:16113258
RGD:8553022
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:polymorphism:exon:p.D299G(human)
RGD
PMID:18275280
RGD:5130863
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Itgam
integrin subunit alpha M
ISO
protein: increased expression: kidney
RGD
PMID:21063074
RGD:7207265
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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Ptx3
pentraxin 3
severity
ISO
associated with hematologic cancer;DNA:SNP:intron:rs1840680
RGD
PMID:30275011
RGD:38501097
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
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Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment
ISO
DNA:polymorphisms:: DNA:polymorphism:: CYP2C19*17(rs12248560)(human)
RGD
PMID:25239277 PMID:31222084
RGD:124713540 , RGD:124713541
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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Ptx3
pentraxin 3
severity
ISO
DNA:SNPs:intron:rs2305619, rs1840680 (human)
RGD
PMID:30275011
RGD:38501097
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
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Ccl2
C-C motif chemokine ligand 2
treatment
IDA
RGD
PMID:12917249
RGD:11528529
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Cd209d
CD209d molecule
susceptibility
ISO
DNA:SNPs:3'utr,intron:multiple
RGD
PMID:22384201
RGD:39938996
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Fgf2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Il1a
interleukin 1 alpha
ISO
DNA:polymorphism, haplotype:promoter:-889C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
ISO
DNA:polymorphism, haplotype: :-511C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Itih4
inter-alpha-trypsin inhibitor heavy chain 4
IEP
protein:increased expression:respiratory system fluid/secretion, serum
RGD
PMID:24360996
RGD:40903005
NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708
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Mbl2
mannose binding lectin 2
treatment
ISO
RGD
PMID:17335555
RGD:8693746
NCBI chr 1:228,016,439...228,024,736
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Ptx3
pentraxin 3
susceptibility no_association
ISO
DNA:SNP:intron:rs1840680 (human) protein:increased expression:bronchoalveolar lavage fluid, plasma (human) protein:increased expression:plasma DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527
RGD
PMID:29020397 PMID:29964232 PMID:29020397 PMID:29020397
RGD:38501098 , RGD:38508894 , RGD:38501098 , RGD:38501098
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
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Vegfa
vascular endothelial growth factor A
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Camk2n1
calcium/calmodulin-dependent protein kinase II inhibitor 1
ISO
RGD
PMID:17010311
RGD:18337278
NCBI chr 5:150,674,819...150,676,600
Ensembl chr 5:150,673,507...150,676,600
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Ripk3
receptor-interacting serine-threonine kinase 3
ameliorates
ISO
RGD
PMID:32265853
RGD:127229907
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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Apoe
apolipoprotein E
severity
ISO
RGD
PMID:10998083
RGD:11039489
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Il6
interleukin 6
treatment
IDA
RGD
PMID:8432613
RGD:11062093
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Tlr9
toll-like receptor 9
ISO
RGD
PMID:17785831
RGD:5130866
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Il23a
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:16157683
RGD:39457940
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Irak3
interleukin-1 receptor-associated kinase 3
severity
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:22729155 PMID:20864681
RGD:35316077 , RGD:36049798
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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Lcn2
lipocalin 2
exacerbates ameliorates
ISO
protein:increased expression:lung protein:increased expression:serum
RGD
PMID:29633303 PMID:19342674 PMID:19342674 PMID:19342674 PMID:25234944 PMID:25234944 More...
RGD:126725082 , RGD:126725085 , RGD:126725085 , RGD:126725085 , RGD:126725084 , RGD:126725084
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Plac8
placenta associated 8
severity
ISO
RGD
PMID:17404296
RGD:40924563
NCBI chr14:9,052,601...9,074,264
Ensembl chr14:9,063,048...9,074,264
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Trem1
triggering receptor expressed on myeloid cells 1
disease_progression
ISO
RGD
PMID:24396044
RGD:126925976
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Prnp
prion protein
ISO
ClinVar Annotator: match by term: Kuru, protection against | ClinVar Annotator: match by term: Kuru, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:1353341 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 PMID:2378641 PMID:2783132 PMID:7902693 PMID:7908444 PMID:8137139 PMID:8461023 PMID:9643750 PMID:9748018 PMID:9751723 PMID:9789072 PMID:10079068 PMID:10437852 PMID:10526198 PMID:10581230 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11756597 PMID:11840201 PMID:12451207 PMID:12601712 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14761942 PMID:14872044 PMID:14970845 PMID:15277640 PMID:15539564 PMID:15987701 PMID:16217673 PMID:16315279 PMID:16369046 PMID:16391566 PMID:16565881 PMID:16969862 PMID:17029785 PMID:17494694 PMID:18955686 PMID:19422533 PMID:19422537 PMID:19703264 PMID:19923577 PMID:20301407 PMID:20583301 PMID:20592908 PMID:21269331 PMID:21839748 PMID:21909425 PMID:21983261 PMID:22108575 PMID:22561193 PMID:22947063 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23320809 PMID:23527023 PMID:23555862 PMID:24583440 PMID:24838726 PMID:25482600 PMID:25741868 PMID:25818675 PMID:26061765 PMID:26268049 PMID:26578040 PMID:26791950 PMID:27341347 PMID:28492532 PMID:29382530 PMID:29887139 More...
NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human)
RGD
PMID:29602771
RGD:41404732
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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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 chr13:78,381,141...78,414,765
Ensembl chr13:78,381,141...78,414,765
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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 chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Ada
adenosine deaminase
ISO
protein:increased expression:serum
RGD
PMID:9255891
RGD:5128857
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:16113250
RGD:4891897
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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Cxcl1
C-X-C motif chemokine ligand 1
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11254553
RGD:5135252
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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Cxcl2
C-X-C motif chemokine ligand 2
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11254553
RGD:5135252
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Cxcl6
C-X-C motif chemokine ligand 6
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11254553
RGD:5135252
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
RGD
PMID:11254553
RGD:5135252
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11349020
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il18
interleukin 18
ISO
RGD
PMID:11083766
RGD:4889865
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Mbl2
mannose binding lectin 2
susceptibility
ISO
RGD
PMID:19073229
RGD:12910934
NCBI chr 1:228,016,439...228,024,736
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Nod1
nucleotide-binding oligomerization domain containing 1
ISO
RGD
PMID:20685341
RGD:5131443
NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
RGD
PMID:20685341
RGD:5131443
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Tlr5
toll-like receptor 5
ISO
DNA:nonsense mutation:cds:p.R392X (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Legionnaire disease, susceptibility to
OMIM CTD ClinVar RGD
PMID:14623910 PMID:16027372 PMID:23447684 PMID:14623910 PMID:17982089
RGD:5129477 , RGD:5129510
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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Tlr9
toll-like receptor 9
ISO
RGD
PMID:18426877
RGD:5130707
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:18838275
RGD:5131445
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
RGD
PMID:18838275
RGD:5131445
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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C3
complement C3
severity
ISO
protein:decreased expression:serum
RGD
PMID:6342123
RGD:7411735
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cd163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:22851198 PMID:28355218
RGD:39939078 , RGD:127345133
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cfb
complement factor B
severity
ISO
RGD
PMID:6342123
RGD:7411735
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Il27
interleukin 27
ameliorates
ISO
mRNA:decreased expression:skin of body (human)
RGD
PMID:26030183
RGD:126790539
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:SNP:cds:161G>A (human)
RGD
PMID:20650301
RGD:8694069
NCBI chr 1:228,016,439...228,024,736
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms: :HLA-DQA1*03, HLA-DQA1*05 (human)
RGD
PMID:19698125
RGD:5147788
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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Vdr
vitamin D receptor
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Batf3
basic leucine zipper ATF-like transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25642632
NCBI chr13:102,689,657...102,701,241
Ensembl chr13:102,689,657...102,701,139
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Ccdc122
coiled-coil domain containing 122
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr15:52,407,717...52,470,163
Ensembl chr15:52,407,717...52,470,163
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Ccdc88b
coiled-coil domain containing 88B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25642632
NCBI chr 1:204,036,913...204,052,878
Ensembl chr 1:204,036,918...204,052,970
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Cd8a
CD8 subunit alpha
exacerbates
ISO
mRNA:increased expression:blood (human)
RGD
PMID:31784594
RGD:124715449
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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Il10
interleukin 10
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il17a
interleukin 17A
severity
ISO
mRNA:decreased expression:epidermis (human)
RGD
PMID:22641009
RGD:8698644
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il19
interleukin 19
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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Il23r
interleukin 23 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22019778
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Lacc1
laccase domain containing 1
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr15:52,390,267...52,407,630
Ensembl chr15:52,395,183...52,407,545
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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 chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703
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Lta
lymphotoxin alpha
susceptibility
ISO
ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:15052269 PMID:17353895
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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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 chr17:77,249,187...77,330,857
Ensembl chr17:77,249,187...77,330,857
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
DNA:polymorphisms: :multiple (human) ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar RGD
PMID:20350193
RGD:5508743
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Parl
presenilin associated, rhomboid-like
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
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Pink1
PTEN induced kinase 1
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
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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:12730996 PMID:12891670 PMID:14519684 PMID:15390068 PMID:15970950 PMID:16049031 PMID:16714300 PMID:17766365 PMID:19162522 PMID:19636047 PMID:19801972 PMID:20457763 PMID:20798600 PMID:22118943 PMID:22555654 PMID:23531835 PMID:24033266 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:33845304 More...
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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Rab32
RAB32, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22019778
NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934
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Ripk2
receptor-interacting serine-threonine kinase 2
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 5:29,630,806...29,662,804
Ensembl chr 5:29,631,570...29,662,657
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphisms (human)
RGD
PMID:20003324 PMID:19698125
RGD:5147585 , RGD:5147788
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Slc11a1
solute carrier family 11 member 1
susceptibility
ISO
DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms, haplotype (human)
CTD RGD
PMID:16597321 PMID:15755200 PMID:10608779
RGD:5684957 , RGD:5684972
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Tlr1
toll-like receptor 1
susceptibility
ISO
DNA:snp:cds:p.I602S (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 | ClinVar Annotator: match by term: Leprosy, susceptibility to, 5
OMIM CTD ClinVar RGD
PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 PMID:26729809 PMID:17548585 More...
RGD:7246917
NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
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Tlr2
toll-like receptor 2
susceptibility
ISO
DNA:polymorphisms:microsatellite,597C>T(human) ClinVar Annotator: match by term: Leprosy, susceptibility to, 3 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:11476982 PMID:12646604 PMID:15726416 PMID:19111445 PMID:25741868 PMID:28492532 PMID:18177245 More...
RGD:8553055
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr6
toll-like receptor 6
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:−308G>A (human)
RGD
PMID:20650301
RGD:8694069
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfsf15
TNF superfamily member 15
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 5:77,134,885...77,156,171
Ensembl chr 5:77,139,878...77,156,228
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25320285
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Ache
acetylcholinesterase
IEP
RGD
PMID:21921108
RGD:5688128
NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651
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Ada
adenosine deaminase
IEP
RGD
PMID:21320715
RGD:5128858
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Bche
butyrylcholinesterase
IEP
protein:increased expression:serum
RGD
PMID:21921108
RGD:5688128
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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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 chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Il1b
interleukin 1 beta
ISO
mRNA, protein:increased expression:kidney (mouse)
RGD
PMID:22323544
RGD:7175257
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Mbl2
mannose binding lectin 2
severity
ISO
protein:increased expression:serum
RGD
PMID:19330263
RGD:6903260
NCBI chr 1:228,016,439...228,024,736
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:19635914
RGD:7240557
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:19635914 PMID:16428731
RGD:7240557 , RGD:7241090
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Btk
Bruton tyrosine kinase
ameliorates
ISO
RGD
PMID:23544144
RGD:124713555
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Cd8a
CD8 subunit alpha
disease_progression exacerbates
ISO
protein:increased expression:liver (mouse) protein:decreased expression:spleen, liver (mouse)
RGD
PMID:20348006 PMID:2120126
RGD:124715456 , RGD:124715458
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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Cebpb
CCAAT/enhancer binding protein beta
severity
ISO
RGD
PMID:17911624
RGD:40903039
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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Cyld
CYLD lysine 63 deubiquitinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23825949
NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
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Il15
interleukin 15
IEP
protein:increased expression:epithelial cell, intestine
RGD
PMID:9826341
RGD:1626618
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Il17d
interleukin 17D
severity
ISO
RGD
PMID:31244826
RGD:40903065
NCBI chr15:31,671,337...31,688,833
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Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
RGD
PMID:8855299
RGD:11522760
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:19923464 PMID:22966045
RGD:39457955 , RGD:39457958
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Il33
interleukin 33
treatment
ISO
RGD
PMID:25577440
RGD:40400693
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Mir146a
microRNA 146a
ameliorates
ISO
RGD
PMID:29587465 PMID:29728425
RGD:126925140 , RGD:126925176
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Mir21
microRNA 21
exacerbates
ISO
RGD
PMID:28589100
RGD:41404664
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mt2A
metallothionein 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19576872
NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
ISO
RGD
PMID:26311905
RGD:40890274
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
ISO
RGD
PMID:30975711
RGD:127229912
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:23378430 PMID:21098106
RGD:39128219 , RGD:39128233
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16751399
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16177108 PMID:21699557
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
G
Fcgr3a
Fc gamma receptor 3A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26773105
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Ina
internexin neuronal intermediate filament protein, alpha
severity
ISO
RGD
PMID:20559547
RGD:40886275
NCBI chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330
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Itgam
integrin subunit alpha M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26773105
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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Selp
selectin P
ISO
RGD
PMID:20179168
RGD:6478687
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:synovial fluid
RGD
PMID:23371320
RGD:7488895
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Cxcr2
C-X-C motif chemokine receptor 2
severity
ISO
RGD
PMID:12847259
RGD:7257681
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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Mir146a
microRNA 146a
exacerbates
ISO
RGD
PMID:24967703
RGD:126925141
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
RGD
PMID:21387014
RGD:5508754
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
G
Plaur
plasminogen activator, urokinase receptor
ISO
mRNA:increased expression:skin
RGD
PMID:19461880 PMID:19461880
RGD:6483813 , RGD:6483813
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:serum (human)
RGD
PMID:16358960
RGD:11528571
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Cd40
CD40 molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Il1b
interleukin 1 beta
IDA
RGD
PMID:23134838
RGD:7193053
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Cd274
CD274 molecule
ISO
RGD
PMID:23230000
RGD:41410802
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Clec12a
C-type lectin domain family 12, member A
disease_progression
ISO
RGD
PMID:31451663
RGD:41412202
NCBI chr 4:162,798,125...162,816,757
Ensembl chr 4:162,798,125...162,816,753
G
Ifnar1
interferon alpha and beta receptor subunit 1
disease_progression
ISO
DNA:mutation: :
RGD
PMID:28878077 PMID:24760883
RGD:124715467 , RGD:124715479
NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
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Ifngr1
interferon gamma receptor 1
ameliorates
ISO
RGD
PMID:22496215
RGD:124715469
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
G
Il1rl1
interleukin 1 receptor-like 1
severity
ISO
RGD
PMID:25829541
RGD:40400708
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:19478140
RGD:6892934
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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Irf7
interferon regulatory factor 7
disease_progression
ISO
RGD
PMID:24760883 PMID:24760883
RGD:124715479 , RGD:124715479
NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832
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Irf9
interferon regulatory factor 9
disease_progression ameliorates
ISO
DNA:mutation: :
RGD
PMID:28878077 PMID:24760883 PMID:22496215
RGD:124715467 , RGD:124715479 , RGD:124715469
NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
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Ncr1
natural cytotoxicity triggering receptor 1
ISO
RGD
PMID:30995287
RGD:40818298
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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Nfkb1
nuclear factor kappa B subunit 1
severity
ISO
RGD
PMID:20565293
RGD:40902858
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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Nfkb2
nuclear factor kappa B subunit 2
disease_progression
ISO
RGD
PMID:20565293
RGD:40902858
NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:30726291 PMID:23230000
RGD:40818232 , RGD:41410802
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Stat1
signal transducer and activator of transcription 1
exacerbates
ISO
RGD
PMID:22496215
RGD:124715469
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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Stat2
signal transducer and activator of transcription 2
ISO
RGD
PMID:32094187 PMID:24760883
RGD:42722006 , RGD:124715479
NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
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Was
WASP actin nucleation promoting factor
ISO
RGD
PMID:23141740
RGD:38676258
NCBI chr X:14,405,105...14,413,850
Ensembl chr X:14,405,124...14,413,849
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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 chr 9:111,160,708...111,220,463
Ensembl chr 9:111,160,712...111,220,352
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Lpin2
lipin 2
ISO
ClinVar Annotator: match by term: Majeed syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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 chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193
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Myl12a
myosin light chain 12A
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr 9:110,891,970...110,899,655
Ensembl chr 9:110,873,959...110,916,580
G
Myl12b
myosin light chain 12B
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr 9:110,873,855...110,888,187
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Myom1
myomesin 1
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
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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 chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
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Tgif1
TGFB-induced factor homeobox 1
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802
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Crp
C-reactive protein
disease_progression
ISO
RGD
PMID:22578647
RGD:9491592
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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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 chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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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 chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
protein:increased expression:mucosa of middle ear,skin of ear canal:
RGD
PMID:24690988
RGD:8552995
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Ifna1
interferon, alpha 1
ISO
mRNA:increased expression:PBMC
RGD
PMID:28435890
RGD:36174031
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
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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 chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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Plaur
plasminogen activator, urokinase receptor
ISO
RGD
PMID:20142364
RGD:6484129
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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Serpinf1
serpin family F member 1
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:23992406 PMID:25370187 PMID:23992406
RGD:36174010 , RGD:36174011 , RGD:36174010
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Tlr5
toll-like receptor 5
ISO
mRNA:increased expression:blood, monocyte, granulocyte (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Melioidosis, resistance to
OMIM CTD ClinVar RGD
PMID:14623910 PMID:16027372 PMID:23447684 PMID:17676990
RGD:5129511
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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Trem1
triggering receptor expressed on myeloid cells 1
severity treatment
ISO
RGD
PMID:18008257 PMID:18008257 PMID:18008257
RGD:126928120 , RGD:126928120 , RGD:126928120
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Il4r
interleukin 4 receptor
ISO
protein:decreased expression:serum
RGD
PMID:21251883
RGD:5128510
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Tnf
tumor necrosis factor
ISO
RGD
PMID:10318940
RGD:10449456
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11956052
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Add1
adducin 1
ISO
DNA:missense mutation:cds:p.G460W (human)
RGD
PMID:18679149
RGD:5147999
NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
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C3
complement C3
severity
ISO
RGD
PMID:3491693
RGD:11041157
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cfb
complement factor B
severity
ISO
RGD
PMID:3491693
RGD:11041157
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Cfd
complement factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16527897
NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
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Cfh
complement factor H
treatment exacerbates
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20694013 PMID:25143339 PMID:19047406
RGD:11041174 , RGD:108019051
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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Cpb2
carboxypeptidase B2
ISO
RGD
PMID:14717966
RGD:1598478
NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
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Fcgr2a
Fc gamma receptor 2A
severity
ISO
associated with complement deficiency;DNA:missense mutation:cds:p.H131R (human) DNA:polymorphism:cds:p.H131R (human)
RGD
PMID:10792385 PMID:11812402
RGD:5147980 , RGD:11040998
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Il4
interleukin 4
susceptibility
ISO
DNA:SNP:promoter:-524C>T(human)
RGD
PMID:20016407
RGD:14696700
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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C9
complement C9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9570574
NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338
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Cd46
CD46 molecule
ISO
RGD
PMID:12869763
RGD:6483466
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cfp
complement factor properdin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8530058 PMID:10909851
NCBI chr X:1,162,014...1,167,576
Ensembl chr X:1,161,979...1,167,573
G
Marco
macrophage receptor with collagenous structure
IEP
protein:increased expression:sub-cortical, meninges, astrocyte
RGD
PMID:21299846
RGD:41412190
NCBI chr13:31,616,278...31,648,521
Ensembl chr13:31,616,278...31,648,521
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Mmp13
matrix metallopeptidase 13
IEP
RGD
PMID:10430840
RGD:8547971
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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Mmp9
matrix metallopeptidase 9
IEP
RGD
PMID:10430840
RGD:8547971
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nod2
nucleotide-binding oligomerization domain containing 2
susceptibility
ISO
DNA:SNP,haplotype: :SNP8(human)
RGD
PMID:23691182
RGD:7800668
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Slc11a1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
G
Tlr2
toll-like receptor 2
susceptibility
ISO
DNA:haplotype: :2477G>A(rs5743708)(human)
RGD
PMID:23691182
RGD:7800668
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:SNP,haplotype: :896A>G(rs4986790)(human)
RGD
PMID:23691182
RGD:7800668
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Aif1
allograft inflammatory factor 1
IEP
protein:increased expression:brain (rat)
RGD
PMID:16150122
RGD:2313041
NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
G
Cnp
2',3'-cyclic nucleotide 3' phosphodiesterase
ISO
mRNA, protein:increased expression:brain, cerebrospinal fluid
RGD
PMID:19592007
RGD:6483338
NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1430592
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Ggt1
gamma-glutamyltransferase 1
ISO
protein:increased activity:blood:
RGD
PMID:1680936
RGD:14747017
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphism (human)
RGD
PMID:20353806
RGD:5147577
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Slc11a1
solute carrier family 11 member 1
ISO
DNA:insertion/deletion:3' utr (human)
RGD
PMID:11791966
RGD:5684970
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Foxp3
forkhead box P3
ISO
mRNA:increased expression:peripheral blood:
RGD
PMID:25483347
RGD:38456003
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms (human)
RGD
PMID:14522182
RGD:5147828
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphism (human)
RGD
PMID:14522182
RGD:5147828
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Il17a
interleukin 17A
ISO
RGD
PMID:20797909
RGD:4888520
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Tnf
tumor necrosis factor
ISO
associated with HIV Infections
RGD
PMID:7640175
RGD:10450731
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Ace
angiotensin I converting enzyme
ISO
associated with pulmonary sarcoidosis;protein:increased expression:blood serum (human)
RGD
PMID:15881283
RGD:40818305
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Cd36
CD36 molecule
ISO
RGD
PMID:20950462
RGD:6893545
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Defb4
defensin beta 4
ISO
protein:increased expression:plasma, respiratory system fluid/secretion
RGD
PMID:11296379
RGD:4892261
NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665
G
Defb5
defensin beta 5
ISO
protein:increased expression:plasma, respiratory system fluid/secretion
RGD
PMID:11296379
RGD:4892261
NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467
G
Ifng
interferon gamma
IEP
associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung
RGD
PMID:19060451
RGD:2311490
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Ifngr1
interferon gamma receptor 1
ISO
DNA: missense mutations: cds: I87T; V63G DNA: mutation
RGD
PMID:21266457 PMID:15589309
RGD:6480268 , RGD:6480429
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
G
Il22
interleukin 22
ISO
RGD
PMID:19864591
RGD:5147407
NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186
G
Mir146a
microRNA 146a
ISO
miRNA:altered expression:peritoneum, liver (mouse)
RGD
PMID:27025258
RGD:126925155
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
G
Ripk3
receptor-interacting serine-threonine kinase 3
ameliorates
ISO
RGD
PMID:28401933
RGD:127229921
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
associated with pulmonary sarcoidosis
RGD
PMID:15881283
RGD:40818305
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Slc11a1
solute carrier family 11 member 1
ISO
DNA:point mutation (mouse)
RGD
PMID:11821237
RGD:5684969
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11452125
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15316035
NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:15316035 PMID:18941223
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Casp3
caspase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20179380
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Ccr5
C-C motif chemokine receptor 5
ISO
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)
RGD
PMID:17445875
RGD:4892129
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20179380
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Mmp9
matrix metallopeptidase 9
IEP
RGD
PMID:17217365
RGD:1642046
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20179380
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Ada
adenosine deaminase
ISO
protein:increased expression:serum
RGD
PMID:9255891
RGD:5128857
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Atp1b2
ATPase Na+/K+ transporting subunit beta 2
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
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Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:16988274
RGD:4892091
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:lung, secretion (mouse)
RGD
PMID:18717637
RGD:4891914
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccr5
C-C motif chemokine receptor 5
ISO
protein:increased expression:lung, T-helper cell (mouse)
RGD
PMID:16988274
RGD:4892091
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Clec5a
C-type lectin domain containing 5A
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 4:69,407,125...69,416,872
Ensembl chr 4:69,407,835...69,416,859
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Col3a1
collagen type III alpha 1 chain
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Col6a1
collagen type VI alpha 1 chain
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
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Col6a2
collagen type VI alpha 2 chain
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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Crp
C-reactive protein
ISO
RGD
PMID:21426633
RGD:5131292
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Dnase1l3
deoxyribonuclease 1-like 3
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr15:16,922,335...16,948,322
Ensembl chr15:16,922,335...16,948,317
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Fcer2
Fc epsilon receptor II
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr12:1,742,809...1,754,476
Ensembl chr12:1,742,815...1,754,476
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Flt1
Fms related receptor tyrosine kinase 1
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Galc
galactosylceramidase
ISO
associated with Guillain-Barre syndrome; protein:increased expression:serum (human) associated with Guillain-Barre syndrome; protein:increased expression:Cerebrospinal fluid, serum (human) protein:increased expression:serum (mouse)
RGD
PMID:27490360 PMID:29301655 PMID:30396892 PMID:30396892 PMID:12225900
RGD:38599168 , RGD:38599172 , RGD:38599171 , RGD:38599171 , RGD:38599169
NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830
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Hdc
histidine decarboxylase
ISO
RGD
PMID:17158962
RGD:5143920
NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341
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Htra3
HtrA serine peptidase 3
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr14:75,068,917...75,097,315
Ensembl chr14:75,068,917...75,097,315
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Ifng
interferon gamma
ISO
mRNA:increased expression:lung:
RGD
PMID:7935058
RGD:10755754
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:20416219
RGD:4145765
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il22ra2
interleukin 22 receptor subunit alpha 2
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 1:14,353,736...14,377,844
Ensembl chr 1:14,364,489...14,377,844
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Inhba
inhibin subunit beta A
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
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Klrb1
killer cell lectin like receptor B1
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 4:162,456,294...162,474,989
Ensembl chr 4:162,456,294...162,474,989
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Ms4a1
membrane spanning 4-domains A1
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
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Pld4
phospholipase D family, member 4
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 6:131,818,860...131,827,457
Ensembl chr 6:131,818,860...131,826,376
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Spib
Spi-B transcription factor
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 1:95,018,939...95,024,804
Ensembl chr 1:95,018,947...95,024,780
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Tcf7
transcription factor 7
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr10:36,423,443...36,454,350
Ensembl chr10:36,423,445...36,453,535
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Tcl1a
Tcl1 family Akt coactivator A
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:20416219
RGD:4145765
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf13c
TNF receptor superfamily member 13C
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Myelitis
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
susceptibility
ISO
DNA:polymorphism: :HLA-DPB1*0201 (human)
RGD
PMID:22884298
RGD:150429795
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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Trem2
triggering receptor expressed on myeloid cells 2
ISO
ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
ClinVar
PMID:12080485 PMID:12754369 PMID:12883936 PMID:12925681 PMID:15883308 PMID:18546367 PMID:21834902 PMID:23150934 PMID:23318515 PMID:23399524 PMID:23582655 PMID:23870839 PMID:24899047 PMID:24990881 PMID:25615530 PMID:25741868 PMID:27995897 PMID:28492532 PMID:28559417 PMID:28768830 PMID:29142083 PMID:29557178 PMID:30042649 PMID:33969597 More...
NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
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Tyrobp
transmembrane immune signaling adaptor Tyrobp
ISO ISS
ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:10888890 PMID:11109371 PMID:12370476 PMID:15883308 PMID:17125796 PMID:17430113 PMID:20500450 PMID:22082900 PMID:25741868 PMID:27658901 PMID:28492532 PMID:28620717 PMID:31996268 PMID:36133075 More...
NCBI chr 1:85,672,931...85,676,856
Ensembl chr 1:85,672,994...85,676,848
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Ptx3
pentraxin 3
severity
ISO
protein:decreased expression:plasma (human)
RGD
PMID:26880104
RGD:38508899
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
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C8a
complement C8 alpha chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9759902
NCBI chr 5:119,583,168...119,637,675
Ensembl chr 5:119,583,174...119,637,754
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C8b
complement C8 beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8098723
NCBI chr 5:119,535,009...119,572,565
Ensembl chr 5:119,535,146...119,572,565
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Cd40
CD40 molecule
ISO
RGD
PMID:19202131
RGD:5132273
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cfd
complement factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11457876
NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
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Aqp4
aquaporin 4
disease_progression
ISO
CTD Direct Evidence: marker/mechanism associated withHiccup; DNA:polymorphism:promoter:-1003A>G(human)
CTD RGD
PMID:18509235 PMID:24070676 PMID:16087714 PMID:22271321 PMID:18420727 PMID:23116879 PMID:23890015 PMID:23995423 PMID:20047900 More...
RGD:5148024 , RGD:8696034 , RGD:8696033 , RGD:8696032 , RGD:8696026 , RGD:8695993 , RGD:5148032
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Cd59em1Ask
CD59 molecule; CRISPR/Cas9 induced mutant1, Ask
severity
IMP
RGD
PMID:28212662
RGD:13792592
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Cd59b
CD59b molecule
severity
IMP
RGD
PMID:28212662
RGD:13792592
NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
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Gfap
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
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Il21
interleukin 21
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:23041403
RGD:127285589
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Il6
interleukin 6
severity
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Mbp
myelin basic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:serum
RGD
PMID:21621856
RGD:8547883
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nefh
neurofilament heavy chain
ISO
protein:increased expression:serum:
RGD
PMID:23316360
RGD:27226805
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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Nefl
neurofilament light chain
ISO
protein:increased expression:serum (human)
RGD
PMID:33317883
RGD:127285024
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*0402 (human) DNA:polymorphism:: HLA-DQB1*02:02 (human)
RGD
PMID:21908482 PMID:27049564
RGD:7421588 , RGD:11530523
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human)
RGD
PMID:21748712 PMID:27049564
RGD:5147590 , RGD:11530523
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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S100b
S100 calcium binding protein B
ISO
RGD
PMID:21371524
RGD:5508767
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Nefl
neurofilament light chain
disease_progression
ISO
protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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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 chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
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Cftr
CF transmembrane conductance regulator
susceptibility
ISO
DNA:mutations: : DNA:SNP:cds:rs113857788(p.Q1352H)(human)
RGD
PMID:19858235 PMID:23514810 PMID:18703788
RGD:4140395 , RGD:36049751 , RGD:4140430
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Ifngr1
interferon gamma receptor 1
susceptibility
ISO
DNA:nonsense mutation ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
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:16199547 PMID:16690980 PMID:17251453 PMID:17513528 PMID:17514500 PMID:17576681 PMID:18171304 PMID:18593809 PMID:19488747 PMID:19880337 PMID:20015550 PMID:21448974 PMID:24033266 PMID:24199198 PMID:24220318 PMID:25216720 PMID:25741868 PMID:26060819 PMID:26173802 PMID:26343451 PMID:26642243 PMID:27356097 PMID:28492532 PMID:28744922 PMID:28902581 PMID:29572183 PMID:8960473 More...
RGD:1624283
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
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Il12b
interleukin 12B
susceptibility
ISO
disseminated BCG and Salmonella enteritidis infection, OMIM:209950 ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive
ClinVar RGD
PMID:9854038
RGD:1600042
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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Il18
interleukin 18
ISO
RGD
PMID:21045270
RGD:4889546
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1r1
interleukin 1 receptor type 1
ISO
RGD
PMID:16797208
RGD:5037237
NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
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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 chr 1:14,424,215...14,494,226
Ensembl chr 1:14,451,228...14,493,602
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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 chr 1:14,353,736...14,377,844
Ensembl chr 1:14,364,489...14,377,844
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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 chr 1:14,081,259...14,083,336
Ensembl chr 1:14,081,328...14,082,149
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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 chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748
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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 chr 1:14,565,482...14,573,581
Ensembl chr 1:14,569,687...14,573,159
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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
ClinVar RGD
PMID:11452125
RGD:1600087
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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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 chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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Il10
interleukin 10
ISO
protein:increased expression:aqueous humor
RGD
PMID:22583692
RGD:7364832
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Cebpb
CCAAT/enhancer binding protein beta
susceptibility
ISO
RGD
PMID:26317211
RGD:11079756
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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Il23a
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:19204111
RGD:39457957
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Lcn2
lipocalin 2
no_association
ISO
mRNA:increased expression:tongues:
RGD
PMID:24343647 PMID:24343647
RGD:126725083 , RGD:126725083
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
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Zc3h12a
zinc finger CCCH type containing 12A
ISO
RGD
PMID:26320658
RGD:11534569
NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
associated with Anemia, Sickle Cell;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*050101, HLA-DQB1*0201, HLA-DQB1*0302 (human)
RGD
PMID:18312480
RGD:11041747
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:18292527
RGD:4892087
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd28
Cd28 molecule
ISO
RGD
PMID:20713624
RGD:5131616
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cfb
complement factor B
ISO
RGD
PMID:7921333
RGD:7421526
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
G
Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:17003484
RGD:8547589
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse)
RGD
PMID:27992577
RGD:39939072
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
G
Il18
interleukin 18
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il1b
interleukin 1 beta
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rl1
interleukin 1 receptor-like 1
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
G
Il33
interleukin 33
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
G
Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:19765107
RGD:8657058
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:19765107
RGD:8657058
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
RT1-Db1
RT1 class II, locus Db1
severity
ISO
DNA:polymorphism, haplotype:cds:HLA-DRB1*11 (human)
RGD
PMID:17325942
RGD:5147631
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:−308G>A(human)
RGD
PMID:17145373
RGD:7401182
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Aoc3
amine oxidase, copper containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr10:86,272,757...86,280,702
G
C1r
complement C1r
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
G
C3
complement C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
G
F2
coagulation factor II, thrombin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
Gsn
gelsolin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
G
Tf
transferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
G
Cp
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16755360
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
G
Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16755360
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
G
Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16755360
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Hp
haptoglobin
ISO
RGD
PMID:21388634
RGD:5144216
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Ggt1
gamma-glutamyltransferase 1
ISO
protein:increased activity:blood:
RGD
PMID:1680936
RGD:14747017
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
G
Crp
C-reactive protein
ISO
protein:increased expression:plasma (human)
RGD
PMID:21679133
RGD:38508897
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
G
Il4
interleukin 4
treatment
IDA
RGD
PMID:24589604
RGD:10402794
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Ptx3
pentraxin 3
ISO
protein:increased expression:plasma (human)
RGD
PMID:21679133
RGD:38508897
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
G
Ccr5
C-C motif chemokine receptor 5
resistance
IAGP
DNA:polymorphism:cds:p.H184R (rat)
RGD
PMID:18703167
RGD:4890425
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Cxcl1
C-X-C motif chemokine ligand 1
ISO
RGD
PMID:21356370
RGD:5134954
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
G
Fpr1
formyl peptide receptor 1
ISO
ClinVar Annotator: match by term: N-FORMYLPEPTIDE RECEPTOR POLYMORPHISM
ClinVar
PMID:28492532 PMID:31534221
NCBI chr 1:58,745,019...58,756,776
Ensembl chr 1:58,747,246...58,756,559
G
Il17a
interleukin 17A
IEP
mRNA,protein:increased expression:lymph node
RGD
PMID:20876291
RGD:4781452
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il1b
interleukin 1 beta
ISO
RGD
PMID:20565713
RGD:4142820
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Mavs
mitochondrial antiviral signaling protein
susceptibility
ISO
RGD
PMID:25064677
RGD:40903046
NCBI chr 3:118,451,650...118,466,094
Ensembl chr 3:118,451,743...118,466,094
G
Ada
adenosine deaminase
ISO
protein:increased activity:pleural fluid: protein:increased activity:serum: protein:increased expression:serum:
RGD
PMID:21860532 PMID:1818842 PMID:1689629 PMID:18357489
RGD:152995280 , RGD:152998934 , RGD:152995292 , RGD:152995288
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
G
Ccl22
C-C motif chemokine ligand 22
ISO
RGD
PMID:20337996
RGD:4891473
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
G
Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:19159432
RGD:4145106
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
G
Ccr5
C-C motif chemokine receptor 5
ISO
protein:increased expression:pleural fluid, natural killer cell (human)
RGD
PMID:19159432
RGD:4145106
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Foxp3
forkhead box P3
disease_progression
ISO
associated with human immunodeficiency virus infectious disease;
RGD
PMID:21303360
RGD:36947878
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Il1b
interleukin 1 beta
ISO
DNA:polymorphism: :3953T>C (human)
RGD
PMID:10377182
RGD:4143226
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rn
interleukin 1 receptor antagonist
ISO
DNA:repeat (human)
RGD
PMID:10377182
RGD:4143226
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il27
interleukin 27
exacerbates
ISO
associated with Pleural Effusion;protein:increased expression:pleural fluid (human) protein:increased expression:alveolar system (human)
RGD
PMID:25753767 PMID:31819557 PMID:23962500 PMID:28844060
RGD:126790505 , RGD:126790549 , RGD:126790523 , RGD:126790517
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
G
Il33
interleukin 33
ISO
protein:increased expression:pleural fluid:
RGD
PMID:23301222
RGD:39939042
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:pleura:
RGD
PMID:18715875
RGD:5129700
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Tlr4
toll-like receptor 4
ISO
RGD
PMID:18295348
RGD:4144193
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tnc
tenascin C
ISO
protein:increased expression:pleura
RGD
PMID:10950882
RGD:4889594
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
G
Cfh
complement factor H
exacerbates
ISO
RGD
PMID:26802141 PMID:26802141
RGD:108019050 , RGD:108019050
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
G
Il17a
interleukin 17A
susceptibility
ISO
associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human)
RGD
PMID:20437253
RGD:4889139
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il27
interleukin 27
ISO
associated with influenza A;protein:increased expression:lung (mouse)
RGD
PMID:24408967
RGD:11556418
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
G
Nfkbia
NFKB inhibitor alpha
susceptibility
ISO
DNA:SNPs:enhancers: (rs3138053, rs2233406) (human) DNA:SNP: :(rs1050851) (human)
RGD
PMID:17463416 PMID:29407193
RGD:127285388 , RGD:127285391
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
G
Tirap
TIR domain containing adaptor protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17322885
NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432
G
Tlr9
toll-like receptor 9
ISO
RGD
PMID:17004992
RGD:5130710
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
G
Adam17
ADAM metallopeptidase domain 17
treatment
IMP
RGD
PMID:24491581
RGD:13703038
NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
G
Aqp4
aquaporin 4
treatment
ISO
protein:increased expression:brain:
RGD
PMID:15695511 PMID:15695511
RGD:8698660 , RGD:8698660
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
G
Atm
ATM serine/threonine kinase
ameliorates
ISO
RGD
PMID:15529270
RGD:126781748
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
Camp
cathelicidin antimicrobial peptide
IEP
protein:increased expression:brain, coronal section (rat)
RGD
PMID:19879657
RGD:2316237
NCBI chr 8:109,841,729...109,843,543
Ensembl chr 8:109,841,729...109,843,543
G
Cxcl1
C-X-C motif chemokine ligand 1
IEP
RGD
PMID:21109308
RGD:5134982
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
G
Cysltr1
cysteinyl leukotriene receptor 1
disease_progression
IEP
mRNA, protein:increased expression:brain (rat)
RGD
PMID:31933824
RGD:40903068
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
G
Cysltr2
cysteinyl leukotriene receptor 2
IEP
mRNA, protein:increased expression:brain (rat)
RGD
PMID:31933824
RGD:40903068
NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
G
Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:24844751
RGD:39939118
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
G
Il6
interleukin 6
treatment
IEP IDA IMP
protein:increased expression:brain
RGD
PMID:25443778 PMID:8943431 PMID:11581077
RGD:9831197 , RGD:11062107 , RGD:11060264
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Lgals3
galectin 3
IEP
mRNA, protein:increased expression:brain
RGD
PMID:17706429
RGD:9685206
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
G
Lgals9
galectin 9
IEP
RGD
PMID:17706429
RGD:9685206
NCBI chr10:63,907,018...63,930,224
Ensembl chr10:63,907,018...63,930,045
G
Marco
macrophage receptor with collagenous structure
IEP
protein:increased expression:meninges, astrocyte
RGD
PMID:21299846
RGD:41412190
NCBI chr13:31,616,278...31,648,521
Ensembl chr13:31,616,278...31,648,521
G
Mmp2
matrix metallopeptidase 2
treatment
IMP
RGD
PMID:24419461
RGD:8657111
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mmp9
matrix metallopeptidase 9
treatment
IEP IMP
protein:increased expression:cerebrospinal fluid
RGD
PMID:17371820 PMID:24419461
RGD:1642043 , RGD:8657111
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Nod2
nucleotide-binding oligomerization domain containing 2
ISO
mRNA, protein:increased expression:brain
RGD
PMID:25443778
RGD:9831197
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
G
Ntrk2
neurotrophic receptor tyrosine kinase 2
IEP
mRNA:increased expression:brain
RGD
PMID:21603940
RGD:5684913
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
G
Rela
RELA proto-oncogene, NF-kB subunit
IEP
protein:increased expression:brain, nucleus
RGD
PMID:25443778
RGD:9831197
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
G
Serping1
serpin family G member 1
treatment
ISO
RGD
PMID:17538891
RGD:8661645
NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
G
Tlr2
toll-like receptor 2
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr4
toll-like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tlr9
toll-like receptor 9
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
G
Tnf
tumor necrosis factor
disease_progression
IEP
protein:increased expression:brain mRNA:increased expression:brain (rat)
RGD
PMID:25443778 PMID:31933824
RGD:9831197 , RGD:40903068
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Aicda
activation-induced cytidine deaminase
ISO
RGD
PMID:26456931
RGD:11098923
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
G
Alox5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:20231413
RGD:4890435
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
G
Btk
Bruton tyrosine kinase
ameliorates
ISO
RGD
PMID:30646846
RGD:124715470
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
G
C3
complement C3
disease_progression
ISO IEP
protein:decreased expression:serum associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion
RGD
PMID:20405 PMID:17956621 PMID:15972516
RGD:5130163 , RGD:5129523 , RGD:5129509
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
G
C5
complement C5
severity
ISO
RGD
PMID:7814608
RGD:5130159
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
G
Ccl5
C-C motif chemokine ligand 5
susceptibility
ISO
RGD
PMID:16455992
RGD:4892130
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Cd14
CD14 molecule
ISO
RGD
PMID:17185649
RGD:4144788
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
G
Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:10515841
RGD:4892626
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
G
Crhr1
corticotropin releasing hormone receptor 1
ISO
RGD
PMID:21774994
RGD:5147472
NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
G
Crhr2
corticotropin releasing hormone receptor 2
ISO
RGD
PMID:21774994
RGD:5147472
NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
G
Crp
C-reactive protein
disease_progression
ISO
RGD
PMID:21281676
RGD:5131293
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
G
Cxcl1
C-X-C motif chemokine ligand 1
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20958976
RGD:5134957
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:lung
RGD
PMID:20381636
RGD:5135285
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
G
Defb5
defensin beta 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467
G
Hmox1
heme oxygenase 1
ISO
associated with influenza;protein:increased expression:lung
RGD
PMID:17348295
RGD:4145366
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Hp
haptoglobin
ISO
RGD
PMID:19396720
RGD:5147385
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Il15
interleukin 15
ISO
protein:increased expression:alveolar macrophage, bronchial epithelial cell
RGD
PMID:17611121
RGD:5000755
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
G
Il15ra
interleukin 15 receptor subunit alpha
ISO
RGD
PMID:17611121
RGD:5000755
NCBI chr17:66,802,300...66,831,973
Ensembl chr17:66,802,334...66,832,278
G
Il17a
interleukin 17A
ISO
RGD
PMID:19995896
RGD:4888531
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il18
interleukin 18
ISO
RGD
PMID:15770015
RGD:4889960
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il6
interleukin 6
ISO
RGD
PMID:20643849
RGD:4143255
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Lep
leptin
ISO
RGD
PMID:17822444
RGD:5128869
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Lepr
leptin receptor
ISO
RGD
PMID:21148797
RGD:5128846
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Mapk1
mitogen activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Mapk3
mitogen activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Masp2
MBL associated serine protease 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12904520
NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
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Mbl2
mannose binding lectin 2
no_association
ISO
DNA:mutations:5' utr, exon:multiple (human) DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:18641104 PMID:12047967
RGD:4889477 , RGD:4889478
NCBI chr 1:228,016,439...228,024,736
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Nos2
nitric oxide synthase 2
ISO
RGD
PMID:17056580
RGD:4891950
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Pten
phosphatase and tensin homolog
ameliorates
ISO
myeloid knockout
RGD
PMID:20505137
RGD:127285597
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Sftpd
surfactant protein D
severity
ISO
RGD
PMID:16255775
RGD:4143519
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29263110
RGD:39128230
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:19956717
RGD:4145321
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Trem1
triggering receptor expressed on myeloid cells 1
ameliorates
ISO
RGD
PMID:24752755 PMID:19596984
RGD:126928121 , RGD:127229903
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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RT1-Db1
RT1 class II, locus Db1
IEP
mRNA:increased expression:bronchoalveolar lavage, alveolar macrophage (rat)
RGD
PMID:20377877
RGD:4144112
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Azin1
antizyme inhibitor 1
IEP
mRNA:increased expression:alveolar macrophage
RGD
PMID:19158080
RGD:14700806
NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578
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C3
complement C3
IEP
RGD
PMID:17169032
RGD:5129525
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20618689
RGD:4891428
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Cd40
CD40 molecule
treatment
ISO
RGD
PMID:10968950
RGD:8547797
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Csf2
colony stimulating factor 2
IEP
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:19487471
RGD:5131475
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:17403873
RGD:39458043
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Il33
interleukin 33
treatment
ISO
RGD
PMID:21220696
RGD:40400892
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:9617869
RGD:5131424
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Nos2
nitric oxide synthase 2
IEP
mRNA:increased expression:alveolar macrophage protein:decreased dimerization:alveolar macrophage
RGD
PMID:20377877 PMID:20558778
RGD:4144112 , RGD:4891486
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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RT1-Bb
RT1 class II, locus Bb
IEP
RGD
PMID:20377877
RGD:4144112
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Sftpa1
surfactant protein A1
ISO
protein:increased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Sftpb
surfactant protein B
ISO
protein:decreased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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Sftpc
surfactant protein C
ISO
protein:decreased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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Sftpd
surfactant protein D
ISO
protein:increased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:18400546
RGD:4145341
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:20385761
RGD:39938865
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Pvr
PVR cell adhesion molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3020560 PMID:28446605
NCBI chr 1:79,561,294...79,576,700
Ensembl chr 1:79,546,879...79,576,715
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Bax
BCL2 associated X, apoptosis regulator
ISO
RGD
PMID:15618403
RGD:13782157
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bcl3
BCL3, transcription coactivator
severity
ISO
RGD
PMID:17573907
RGD:40902830
NCBI chr 1:79,471,368...79,485,908
Ensembl chr 1:79,471,369...79,485,607
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Cebpa
CCAAT/enhancer binding protein alpha
ISO
mRNA, protein:increased expression:hippocampus CA1, thalamus (mouse)
RGD
PMID:23392676
RGD:10401270
NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
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Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
protein:increased expression:astrocyte
RGD
PMID:11870871
RGD:4892001
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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Cx3cr1
C-X3-C motif chemokine receptor 1
IEP
protein:increased expression:microglial cell
RGD
PMID:11870871
RGD:4892001
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Nfkb1
nuclear factor kappa B subunit 1
severity
ISO
RGD
PMID:17573907
RGD:40902830
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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Nfkb2
nuclear factor kappa B subunit 2
ISO
RGD
PMID:17573907
RGD:40902830
NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
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Notch1
notch receptor 1
ISO
RGD
PMID:15640354
RGD:13782159
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Plau
plasminogen activator, urokinase
ISO
mRNA:increased expression:hippocampus
RGD
PMID:19459212
RGD:6483816
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Plaur
plasminogen activator, urokinase receptor
ISO
mRNA:increased expression:hippocampus
RGD
PMID:19459212
RGD:6483816
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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Ppia
peptidylprolyl isomerase A
exacerbates
ISO
RGD
PMID:31181281
RGD:150383343
NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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Prnp
prion protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Inherited prion disease | ClinVar Annotator: match by term: Prion disease, susceptibility to | ClinVar Annotator: match by term: Spongiform encephalopathy
CTD ClinVar
PMID:1353341 PMID:1672296 PMID:1674033 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 PMID:2180366 PMID:2190844 PMID:2378641 PMID:2564168 PMID:2572450 PMID:2783132 PMID:7902693 PMID:7902971 PMID:7908444 PMID:8137139 PMID:8461023 PMID:8698234 PMID:9482303 PMID:9643750 PMID:9653185 PMID:9748018 PMID:9751723 PMID:9789072 PMID:10079068 PMID:10437852 PMID:10526198 PMID:10581230 PMID:10612329 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11701772 PMID:11749972 PMID:11756597 PMID:11840201 PMID:11967261 PMID:11994310 PMID:12172394 PMID:12420099 PMID:12451207 PMID:12601712 PMID:12690204 PMID:12813570 PMID:12815603 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14610121 PMID:14761942 PMID:14872044 PMID:14970845 PMID:15277640 PMID:15539564 PMID:15557533 PMID:15967879 PMID:15987701 PMID:16217673 PMID:16315279 PMID:16369046 PMID:16380907 PMID:16391566 PMID:16565881 PMID:16969862 PMID:17029785 PMID:17257012 PMID:17274528 PMID:17494694 PMID:17666888 PMID:18955686 PMID:19422533 PMID:19422537 PMID:19696976 PMID:19703264 PMID:19812771 PMID:19923577 PMID:20301407 PMID:20583301 PMID:20592908 PMID:20697057 PMID:21269331 PMID:21839748 PMID:21909425 PMID:21983261 PMID:22097954 PMID:22108575 PMID:22561193 PMID:22947063 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23320809 PMID:23527023 PMID:23555862 PMID:23668481 PMID:24583440 PMID:24838726 PMID:25022973 PMID:25482600 PMID:25741868 PMID:25818675 PMID:26268049 PMID:26578040 PMID:26757195 PMID:26791950 PMID:27341347 PMID:28492532 PMID:29382530 PMID:29887139 PMID:30606247 More...
NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
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Sod1
superoxide dismutase 1
disease_progression
ISO
DNA:SNP:intron
RGD
PMID:23349894 PMID:18559949
RGD:13782160 , RGD:13782161
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Nefl
neurofilament light chain
ISO
associated with relapsing-remitting multiple sclerosis;protein:increased expression:serum (human)
RGD
PMID:33903203 PMID:30761586
RGD:127284888 , RGD:127285025
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Cebpb
CCAAT/enhancer binding protein beta
treatment
ISO
mRNA, protein:increased expression:cornea (mouse)
RGD
PMID:23626014
RGD:40903020
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:9916118
RGD:8547701
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il10
interleukin 10
treatment
ISO
RGD
PMID:23878501
RGD:7364804
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il18
interleukin 18
ISO
RGD
PMID:12023376
RGD:8655931
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
ISO
RGD
PMID:11895986
RGD:7401195
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
treatment
ISO
mRNA:increased expression:cornea (mouse)
RGD
PMID:11895986 PMID:9423885
RGD:7401195 , RGD:8549805
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il6
interleukin 6
ISO
RGD
PMID:11349084
RGD:7829813
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Mmp9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:16384971
RGD:8547891
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Tlr2
toll-like receptor 2
ISO
mRNA,protein:increased expression:cornea:
RGD
PMID:20012880
RGD:8552969
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
mRNA,protein:increased expression:cornea:
RGD
PMID:17065506 PMID:20012880
RGD:7794775 , RGD:8552969
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tslp
thymic stromal lymphopoietin
severity
ISO
RGD
PMID:30128494
RGD:38596331
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
susceptibility
ISO
DNA:polymorphism:cds:allele B (human)
RGD
PMID:22464692
RGD:38455983
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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Anxa2
annexin A2
severity
ISO
RGD
PMID:26371245
RGD:38676497
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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Ccl17
C-C motif chemokine ligand 17
ISO
associated with Cystic Fibrosis
RGD
PMID:16387607
RGD:4145500
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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Ccl5
C-C motif chemokine ligand 5
treatment
ISO
protein:increased expression:lung, secretion (mouse)
RGD
PMID:20720199 PMID:27175332
RGD:4891951 , RGD:32733623
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Cftr
CF transmembrane conductance regulator
ISO
RGD
PMID:15039325 PMID:11390493
RGD:36049749 , RGD:36049752
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Crp
C-reactive protein
IEP ISO
protein:increased expression:blood associated with Diabetes Mellitus, Type 1;
RGD
PMID:19561148 PMID:22864910
RGD:5131464 , RGD:6906966
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Csf2
colony stimulating factor 2
treatment
ISO
associated with Neutropenia;
RGD
PMID:1966550
RGD:10449524
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Dctn4
dynactin subunit 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22772370
NCBI chr18:53,982,355...54,009,409
Ensembl chr18:53,982,358...54,009,399
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Defb1
defensin beta 1
no_association susceptibility
ISO
associated with Cystic Fibrosis;DNA:SNPs:5' utr, intron, 3' utr:multiple (human) associated with Cystic Fibrosis;DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human)
RGD
PMID:15820309 PMID:17960157 PMID:20193032
RGD:4892256 , RGD:4892250 , RGD:4892248
NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
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Fcgr2a
Fc gamma receptor 2A
ISO
associated with Cystic Fibrosis; DNA:polymorphism: :p.H131R (human)
RGD
PMID:15367919
RGD:4144121
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Fgf2
fibroblast growth factor 2
treatment
ISO
human protein in mouse model
RGD
PMID:26617350
RGD:126928152
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Fgf7
fibroblast growth factor 7
treatment
ISO
human protein in rat model
RGD
PMID:11076810
RGD:126928130
NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
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Gsta4
glutathione S-transferase alpha 4
susceptibility
ISO
RGD
PMID:22038048
RGD:5687774
NCBI chr 8:79,066,967...79,084,193
Ensembl chr 8:79,066,934...79,084,182
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
associated with Cystic Fibrosis
RGD
PMID:18976645
RGD:4142522
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Il13
interleukin 13
ISO
associated with Cystic Fibrosis
RGD
PMID:16387607
RGD:4145500
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il1b
interleukin 1 beta
treatment
ISO
associated with Agranulocytosis
RGD
PMID:7486912 PMID:7923933
RGD:7401204 , RGD:10450534
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
associated with Cystic Fibrosis
RGD
PMID:8327288
RGD:4143202
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il24
interleukin 24
ISO
associated with Cystic Fibrosis
RGD
PMID:19399182
RGD:5147421
NCBI chr13:42,353,089...42,358,487
Ensembl chr13:42,353,090...42,358,487
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Il27
interleukin 27
ameliorates
ISO
associated with Sepsis
RGD
PMID:25074706
RGD:126790541
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Il33
interleukin 33
ISO
mRNA:increased expression:lung:
RGD
PMID:28401938
RGD:40400699
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Il6
interleukin 6
treatment
ISO
RGD
PMID:27175332
RGD:32733623
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irak3
interleukin-1 receptor-associated kinase 3
severity
ISO
associated with Sepsis
RGD
PMID:16917541
RGD:36049803
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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Klrk1
killer cell lectin like receptor K1
ISO
RGD
PMID:18832705
RGD:38676496
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Mapk8
mitogen-activated protein kinase 8
ameliorates
ISO
associated with Pneumonia, Ventilator-Associated
RGD
PMID:27506464
RGD:150340682
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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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 chr 1:228,016,439...228,024,736
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Pten
phosphatase and tensin homolog
exacerbates
ISO
RGD
PMID:29246444
RGD:127285608
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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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 chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
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RT1-Ba
RT1 class II, locus Ba
ISO
associated with Cystic Fibrosis;DNA:polymorphisms, haplotype:cds:HLA-DQA1*0201 (human)
RGD
PMID:10228112
RGD:5147865
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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Sftpb
surfactant protein B
ameliorates
ISO
RGD
PMID:20007532
RGD:151667448
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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Tlr5
toll-like receptor 5
ISO
RGD
PMID:20566829
RGD:5129679
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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Tnf
tumor necrosis factor
treatment
ISO
associated with Agranulocytosis
RGD
PMID:7923933 PMID:27175332 PMID:8168971
RGD:10450534 , RGD:32733623 , RGD:10450561
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:20448050
RGD:5131427
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Ptx3
pentraxin 3
ISO
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
RGD
PMID:29964232
RGD:38508894
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
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Abcb1a
ATP binding cassette subfamily B member 1A
treatment
ISO
DNA:SNP: :2677G>A (human)
RGD
PMID:26067842
RGD:11098541
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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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:12194640 PMID:2212911 PMID:19460251
RGD:5128854 , RGD:152995390 , RGD:152995271
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:plasma
RGD
PMID:22022605
RGD:5686405
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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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 chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Alox5
arachidonate 5-lipoxygenase
susceptibility
ISO
DNA:polymorphism, repeat:promoter, exon:g.760G>A (human)
RGD
PMID:18174194
RGD:4890411
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Asap1
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25774636
NCBI chr 7:95,786,130...96,093,111
Ensembl chr 7:95,787,818...96,092,754
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Atf3
activating transcription factor 3
ISO
mRNA,protein:increased expression:lung
RGD
PMID:20856677
RGD:34888225
NCBI chr13:102,751,278...102,800,520
Ensembl chr13:102,751,321...102,764,631
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C3
complement C3
ISO
RGD
PMID:19472039
RGD:5129500
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Ccl1
C-C motif chemokine ligand 1
susceptibility
ISO
mRNA:increased expression:lung, dendritic cell DNA:SNP: :multiple (human)
RGD
PMID:18703681 PMID:19057661
RGD:4891409 , RGD:4891408
NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
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Ccl19
C-C motif chemokine ligand 19
ISO
mRNA:increased expression:lung
RGD
PMID:19933855
RGD:5130906
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO
DNA:polymorphism: :-2518A>G (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16352737 PMID:18940815 PMID:20111728
RGD:4891439
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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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:19335954 PMID:15128813
RGD:4891879 , RGD:4892112
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccr2
C-C motif chemokine receptor 2
disease_progression
ISO
RGD
PMID:11438742
RGD:734715
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr5
C-C motif chemokine receptor 5
ISO
protein:decreased expression:blood, T cell (human)
RGD
PMID:16379602
RGD:4892094
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd14
CD14 molecule
susceptibility
ISO
DNA:polymorphism:promoter:c. -159C>T (human)|protein:increased expression:monocyte, serum
RGD
PMID:18008256 PMID:18008256
RGD:4144205 , RGD:4144205
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cd163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood plasma, CD14-positive monocyte (human) protein:increased expression:blood serum (human)
RGD
PMID:27685837 PMID:27684274
RGD:127285801 , RGD:127345136
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd1d1
CD1d1 molecule
susceptibility
ISO
DNA:SNPS, haplotype:intron, enhancer: (rs859009,rs859010, rs973742) (human)
RGD
PMID:30972222
RGD:127345096
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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Cd209d
CD209d molecule
susceptibility
ISO
CTD Direct Evidence: marker/mechanism associated with HIV Seropositivity; DNA:SNP:promoter: -336A>G (rs4804803) (human) DNA:SNPs:promoter:-139G>A, -336A>G, -871A>G (rs2287886,rs4804803,rs735239) (human)
CTD RGD
PMID:16379498 PMID:19126442 PMID:24874302
RGD:39939062 , RGD:39938981
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Cd274
CD274 molecule
ISO
protein:increased expression:Tcell, B cell, monocyte
RGD
PMID:23661793
RGD:40818418
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Cd36
CD36 molecule
susceptibility
ISO
DNA:SNPs: :rs1194182, rs10499859(human)
RGD
PMID:28693442
RGD:41412192
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cd86
CD86 molecule
ISO
protein:decreased expression:sputum, macrophage (human)
RGD
PMID:17713660
RGD:4892339
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Clec4m
C-type lectin domain family 4 member M
susceptibility
ISO
DNA:repeats:exon 4: allele 4, allele 5, allele 9 (human)
RGD
PMID:19770268 PMID:24874302 PMID:17224292
RGD:39938983 , RGD:39938981 , RGD:39938987
NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
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Crp
C-reactive protein
severity
ISO
associated with HIV Infections
RGD
PMID:21219690 PMID:21197091
RGD:5131284 , RGD:5131287
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Cxcl10
C-X-C motif chemokine ligand 10
treatment
ISO
RGD
PMID:29843631
RGD:27095956
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl2
C-X-C motif chemokine ligand 2
disease_progression
ISO
RGD
PMID:20454613
RGD:5135037
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Cxcl6
C-X-C motif chemokine ligand 6
susceptibility
ISO
mRNA:increased expression:lung
RGD
PMID:16790804
RGD:5135246
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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Cyba
cytochrome b-245 alpha chain
no_association
ISO
DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human)
RGD
PMID:16608528
RGD:4780358
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Ddit3
DNA-damage inducible transcript 3
ISO
mRNA,protein:increased expression:lung
RGD
PMID:20856677
RGD:34888225
NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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Egfr
epidermal growth factor receptor
disease_progression
ISO
associated with lung adenocarcinoma;
RGD
PMID:29621876 PMID:22173705
RGD:38599162 , RGD:38599176
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Ereg
epiregulin
susceptibility
ISO
DNA:SNP:exon 4: (rs2367707) (human)
RGD
PMID:30634928
RGD:39457687
NCBI chr14:17,027,287...17,041,062
Ensembl chr14:17,027,287...17,041,062
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Foxp3
forkhead box P3
susceptibility
ISO
DNA:polymorphism:promoter:-924A>G(human)
RGD
PMID:29020928
RGD:38501101
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Gbe1
1,4-alpha-glucan branching enzyme 1
ISO
DNA:SNP:intron:rs2307058 (human)
RGD
PMID:28355295
RGD:18337291
NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
associated with GSTT1 null deletion; DNA:deletion: :
RGD
PMID:20297661
RGD:4140932
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:20297661
RGD:4140932
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Havcr2
hepatitis A virus cellular receptor 2
ISO
RGD
PMID:21382414
RGD:5135524
NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
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Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:32369456
RGD:39939073
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Il13
interleukin 13
ISO
mRNA:increased expression:Leukocytes, Mononuclear
RGD
PMID:10608794
RGD:4145649
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il15
interleukin 15
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11742275
RGD:4990461
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Il18
interleukin 18
ISO
protein:increased expression:serum
RGD
PMID:15955140
RGD:4889836
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:9176116
RGD:4142835
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
severity susceptibility
ISO
protein:increased expression:lung DNA:polymorphism: :3953T>C (human) protein:increased expression:bronchioalveolar lavage fluid (human)
RGD
PMID:10543265 PMID:16634865 PMID:10631206
RGD:4143180 , RGD:5147843 , RGD:4143179
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rl1
interleukin 1 receptor-like 1
ISO
RGD
PMID:28128217
RGD:39938965
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il1rn
interleukin 1 receptor antagonist
severity
ISO
protein:increased expression:lung, serum
RGD
PMID:10543265 PMID:14619382 PMID:10631206
RGD:4143180 , RGD:4143174 , RGD:4143179
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il23a
interleukin 23 subunit alpha
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:16002675 PMID:21156751 PMID:20624887 PMID:11801672
RGD:39457949 , RGD:39458038 , RGD:39458036 , RGD:39457953
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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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:31949807 PMID:30948177
RGD:126790508 , RGD:39456132
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Il27ra
interleukin 27 receptor subunit alpha
ISO
RGD
PMID:15749890
RGD:5128486
NCBI chr19:24,109,963...24,121,977
Ensembl chr19:24,109,972...24,121,938
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Il33
interleukin 33
ISO
RGD
PMID:28128217
RGD:39938965
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Il4
interleukin 4
severity
ISO
RGD
PMID:20832364
RGD:5128550
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il4r
interleukin 4 receptor
ISO
protein:decreased expression:serum
RGD
PMID:21251883
RGD:5128510
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il6
interleukin 6
ISO
RGD
PMID:20624776
RGD:4143257
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il6r
interleukin 6 receptor
ISO
protein:decreased expression:T cell
RGD
PMID:20019339
RGD:5128632
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
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Irf1
interferon regulatory factor 1
ISO
RGD
PMID:11083808
RGD:5128719
NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
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Itih4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
protein:increased expression:urine
RGD
PMID:29636444
RGD:40903003
NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708
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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 chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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Lcn2
lipocalin 2
exacerbates disease_progression
ISO
RGD
PMID:19050270 PMID:30534124
RGD:126779558 , RGD:126779565
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Lta
lymphotoxin alpha
susceptibility
ISO
DNA:polymorphism:intron:252G>A (human)
RGD
PMID:20180006
RGD:4143234
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Marco
macrophage receptor with collagenous structure
susceptibility
ISO
DNA:SNP: :rs12998782(human) DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human) DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human)
RGD
PMID:28693442 PMID:23617307 PMID:27853145
RGD:41412192 , RGD:41412195 , RGD:41412194
NCBI chr13:31,616,278...31,648,521
Ensembl chr13:31,616,278...31,648,521
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Mbl2
mannose binding lectin 2
ISO
DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:19199550
RGD:4889452
NCBI chr 1:228,016,439...228,024,736
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Mif
macrophage migration inhibitory factor
susceptibility
ISO
DNA:SNP: :rs755622 (human)
RGD
PMID:20439102
RGD:4891004
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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Mir30a
microRNA 30a
disease_progression
ISO
RGD
PMID:25866116
RGD:35668864
NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
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Mmp3
matrix metallopeptidase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp7
matrix metallopeptidase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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Mmp8
matrix metallopeptidase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chr 8:4,724,009...4,733,864
Ensembl chr 8:4,724,029...4,733,520
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:16982845
RGD:5130746
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nat2
N-acetyltransferase 2
susceptibility
ISO
RGD
PMID:20297661
RGD:4140932
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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Nfkbia
NFKB inhibitor alpha
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:9379002
RGD:126908014
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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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 chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Nos2
nitric oxide synthase 2
ISO
DNA:SNPs:multiple (human)
RGD
PMID:19575238
RGD:4144122
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Pdcd1
programmed cell death 1
treatment
ISO
protein:increased expression:Tcell, B cell, monocyte
RGD
PMID:23661793 PMID:23661793
RGD:40818418 , RGD:40818418
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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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 chr 1:227,158,941...227,223,938
Ensembl chr 1:227,158,941...227,223,938
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Plaur
plasminogen activator, urokinase receptor
severity
ISO
RGD
PMID:18359089
RGD:6483832
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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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 chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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RT1-Bb
RT1 class II, locus Bb
disease_progression susceptibility
ISO
DNA:polymorphisms (human) DNA:polymorphism: :HLA-DQB1*3:03(human) DNA:polymorphism:cds:HLA-DQB1*0201(human)
RGD
PMID:19230186 PMID:28612994 PMID:24024195
RGD:5147614 , RGD:36049765 , RGD:36049753
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DRB1*0201(human) DNA:polymorphism: :HLA-DRB1*09:01(human)
RGD
PMID:24024195 PMID:28612994
RGD:36049753 , RGD:36049765
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
ISO
RGD
PMID:18652916
RGD:5144001
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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Sftpa1
surfactant protein A1
susceptibility
ISO
DNA:SNPs:exons:307G>A, 776C>T (human) DNA:SNP:intron:1416C>T (human)
RGD
PMID:16292672 PMID:12476938
RGD:4144874 , RGD:4144875
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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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:5684974 , RGD:36049753
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
G
Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
associated with HIV Infections;
RGD
PMID:21843574
RGD:6482248
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
G
Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:9062973
RGD:5147851
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
G
Tlr1
toll-like receptor 1
ISO
mRNA:increased expression:blood
RGD
PMID:16493059
RGD:4889525
NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
G
Tlr2
toll-like receptor 2
susceptibility
ISO
DNA:polymorphism:intron (human) DNA:polymorphisms: :multiple (human) DNA:SNP: :rs1816702 (human) mRNA, protein:increased expression:blood, T cell
RGD
PMID:20298136 PMID:20113509 PMID:19723394 PMID:19552525
RGD:4145304 , RGD:4145320 , RGD:4145323 , RGD:4145355
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
severity susceptibility
ISO
DNA:polymorphisms:cds: p. D299F, T399I (human) DNA:SNP:intron: rs5030729 (human) protein:increased expression:monocyte
RGD
PMID:20403143 PMID:19575238 PMID:18008256
RGD:4144106 , RGD:4144122 , RGD:4144205
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tlr9
toll-like receptor 9
ISO
DNA:snps:multiple (human)
RGD
PMID:19771452
RGD:5130704
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
G
Tnf
tumor necrosis factor
susceptibility disease_progression
ISO
DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human)
RGD
PMID:20650298 PMID:9176116 PMID:18212516
RGD:4143388 , RGD:4142835 , RGD:4143395
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Trem1
triggering receptor expressed on myeloid cells 1
disease_progression
ISO
RGD
PMID:29844416
RGD:126925977
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
G
Vdr
vitamin D receptor
susceptibility
ISO
DNA:SNP (human) DNA:SNPs:5' UTR (human) DNA:SNPs:promoter, 3' UTR (human) DNA:SNPs (human)
RGD
PMID:17236578 PMID:20231985 PMID:18397302 PMID:18231846 PMID:15295697
RGD:4889849 , RGD:4889830 , RGD:4889842 , RGD:4889845 , RGD:4889853
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
G
Ada
adenosine deaminase
ISO
protein:increased expression:serum
RGD
PMID:9255891
RGD:5128857
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
G
Dhcr24
24-dehydrocholesterol reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137
G
Flot1
flotillin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr20:2,917,864...2,927,993
Ensembl chr20:2,917,137...2,927,978
G
Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
G
Ldlr
low density lipoprotein receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
G
Lss
lanosterol synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
G
Il4r
interleukin 4 receptor
ISO
protein:decreased expression:serum DNA:polymorphism:cds:p.I50V (human)
RGD
PMID:21251883 PMID:19548368
RGD:5128510 , RGD:7207069
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Gc
GC, vitamin D binding protein
ISO
RGD
PMID:2737695
RGD:5509933
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
G
Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:14567831
RGD:13702910
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms, haplotypes:multiple DNA:polymorphism: :HLA-DQA1*03 (human)
RGD
PMID:17559688 PMID:15789899
RGD:5147792 , RGD:127285392
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms, haplotypes:multiple
RGD
PMID:17559688
RGD:5147792
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphisms, haplotypes:multiple
RGD
PMID:17559688
RGD:5147792
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Acta2
actin alpha 2, smooth muscle
IEP
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
G
Bax
BCL2 associated X, apoptosis regulator
IEP
mRNA:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Cd209d
CD209d molecule
ISO
protein:increased expression:left cardiac atrium, dendritic cell (human)
RGD
PMID:30261069
RGD:41410815
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
G
Cd36
CD36 molecule
ISO
mRNA:decreased expression:blood, mononuclear cell
RGD
PMID:16741676
RGD:6893529
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
G
Col1a1
collagen type I alpha 1 chain
IEP
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
G
Col3a1
collagen type III alpha 1 chain
IEP
mRNA:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
IEP
RGD
PMID:26823728
RGD:13792679
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
G
Igf1
insulin-like growth factor 1
ISO
RGD
PMID:16406300
RGD:1582623
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
G
Il10
interleukin 10
no_association
ISO
RGD
PMID:16043936
RGD:1598626
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Inhba
inhibin subunit beta A
IEP
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
G
Lef1
lymphoid enhancer binding factor 1
IEP
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794
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Mir155
microRNA 155
IMP
RGD
PMID:31894293
RGD:151347417
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:16406300
RGD:1582623
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms, haplotypes:multiple DNA:polymorphism, haplotype: :HLA-DQA1*0101, HLA-DQA1*0103, HLA-DQA1*0301 (human)
RGD
PMID:17559688 PMID:29029143
RGD:5147792 , RGD:126925989
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms:cds:HLA-DQB1*08 (human)
RGD
PMID:17578051
RGD:5147630
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism:cds:HLA-DRB1*13 (human)
RGD
PMID:17578051 PMID:16426242
RGD:5147630 , RGD:5147643
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Snai1
snail family transcriptional repressor 1
IEP
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969
G
Socs1
suppressor of cytokine signaling 1
treatment
IEP
RGD
PMID:31894293
RGD:151347417
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
G
Twist1
twist family bHLH transcription factor 1
IEP
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
G
Zeb1
zinc finger E-box binding homeobox 1
IEP
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
G
Zeb2
zinc finger E-box binding homeobox 2
IEP
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157
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Gsn
gelsolin
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:25403731
RGD:329333026
NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
G
Icam1
intercellular adhesion molecule 1
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Sele
selectin E
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
G
Vcam1
vascular cell adhesion molecule 1
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:17321882
RGD:8547664
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:17321882
RGD:8547664
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
Rapgef3
Rap guanine nucleotide exchange factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24218580
NCBI chr 7:128,875,772...128,898,203
Ensembl chr 7:128,875,773...128,898,521
G
Adar
adenosine deaminase, RNA-specific
ISO
mRNA:splice variant:liver (mouse)
RGD
PMID:12228285
RGD:125097511
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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Ahr
aryl hydrocarbon receptor
severity
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
G
Aicda
activation-induced cytidine deaminase
severity
ISO
RGD
PMID:29743315
RGD:127285640
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
G
Ank1
ankyrin 1
ISO
RGD
PMID:23390527
RGD:11041609
NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759
G
Hamp
hepcidin antimicrobial peptide
ISO
RGD
PMID:23390527
RGD:11041609
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
G
Ido1
indoleamine 2,3-dioxygenase 1
susceptibility
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16002714
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Slc11a1
solute carrier family 11 member 1
ISO
RGD
PMID:14734525
RGD:5684962
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
G
Tlr5
toll-like receptor 5
IEP
mRNA, protein:increased expression:jejunum, colon (rat)
RGD
PMID:20529359
RGD:5129497
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
G
Coq7
coenzyme Q7, hydroxylase
susceptibility
ISO
RGD
PMID:23166727
RGD:10402105
NCBI chr 1:172,836,359...172,851,173
Ensembl chr 1:172,835,188...172,851,158
G
Il12b
interleukin 12B
susceptibility
ISO
disseminated BCG and Salmonella enteritidis infection, OMIM:209950
RGD
PMID:9854038
RGD:1600042
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
G
Cftr
CF transmembrane conductance regulator
treatment
IEP ISO
RGD
PMID:19012687 PMID:19012687 PMID:19012687
RGD:11566047 , RGD:11566047 , RGD:11566047
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
G
Atf6
activating transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349890
NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
G
Bax
BCL2 associated X, apoptosis regulator
ISO
RGD
PMID:27921253
RGD:13782156
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
G
Casp3
caspase 3
ISO
RGD
PMID:27921253
RGD:13782156
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
G
Casp9
caspase 9
ISO
RGD
PMID:27921253
RGD:13782156
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
G
Ccl5
C-C motif chemokine ligand 5
ISO
RGD
PMID:22787236
RGD:13782158
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:18396336
RGD:5688145
NCBI chr 8:123,556,286...123,561,841
G
Cd209a
CD209a molecule
ISO
RGD
PMID:27522473
RGD:40400758
NCBI chr12:1,822,663...1,828,246
Ensembl chr12:1,822,663...1,828,246
G
Cr2
complement C3d receptor 2
ISO
RGD
PMID:29202042
RGD:127285805
NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
G
Jak2
Janus kinase 2
ISO
protein:increased expression:brain
RGD
PMID:17897356
RGD:6483034
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
G
Mir146a
microRNA 146a
ISO
miRNA:increased expression:brain, hippocampus, cerebellum (mouse)
RGD
PMID:22363497
RGD:126925151
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
G
Negr1
neuronal growth regulator 1
ISO
RGD
PMID:29087046
RGD:40886276
NCBI chr 2:245,624,460...246,359,605
Ensembl chr 2:245,624,435...246,356,730
G
Pdia3
protein disulfide isomerase family A, member 3
ISO
protein:increased expression:brain:
RGD
PMID:15772339
RGD:9999196
NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236
G
Prnp
prion protein
onset
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11701772 PMID:18717736 PMID:19486493 PMID:21533749 PMID:29157304
RGD:15045596
NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
G
Slc6a4
solute carrier family 6 member 4
susceptibility
ISO
RGD
PMID:16730863
RGD:38676483
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
G
Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11701772
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
G
Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:16412998
RGD:1581331
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
G
Stat1
signal transducer and activator of transcription 1
ISO
protein:increased expression:brain
RGD
PMID:17897356
RGD:6483034
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
G
Stat3
signal transducer and activator of transcription 3
ISO
protein:increased tyrosine phosphorylation:brain, nucleus
RGD
PMID:17897356
RGD:6483034
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
G
Egf
epidermal growth factor
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
G
Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
G
Il10
interleukin 10
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il12b
interleukin 12B
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
G
Il1b
interleukin 1 beta
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Sting1
stimulator of interferon response cGAMP interactor 1
severity
ISO
RGD
PMID:31141689
RGD:39128194
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:missense mutation:CDS:c.592C>G (p.Q198E) (human)
RGD
PMID:29795056
RGD:126928140
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
Prnp
prion protein
ISO
ClinVar Annotator: match by term: Spongiform encephalopathy with neuropsychiatric features CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:1353341 PMID:1672296 PMID:1674033 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 PMID:2180366 PMID:2190844 PMID:2378641 PMID:2564168 PMID:2572450 PMID:2783132 PMID:7902693 PMID:7902971 PMID:7908444 PMID:8137139 PMID:8461023 PMID:8698234 PMID:9266722 PMID:9643750 PMID:9653185 PMID:9748018 PMID:9751723 PMID:9789072 PMID:10079068 PMID:10437852 PMID:10526198 PMID:10581230 PMID:10581485 PMID:10612329 PMID:10953183 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11756597 PMID:11840201 PMID:11967261 PMID:12172394 PMID:12451207 PMID:12601712 PMID:12813570 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14610121 PMID:14761942 PMID:14872044 PMID:14970845 PMID:15277640 PMID:15539564 PMID:15824374 PMID:15967879 PMID:15987701 PMID:16217673 PMID:16315279 PMID:16369046 PMID:16380907 PMID:16391566 PMID:16565881 PMID:16831973 PMID:16969862 PMID:17029785 PMID:17494694 PMID:17666888 PMID:18955686 PMID:19422533 PMID:19422537 PMID:19696976 PMID:19703264 PMID:19923577 PMID:20301407 PMID:20583301 PMID:20592908 PMID:21269331 PMID:21839748 PMID:21909425 PMID:21983261 PMID:22097954 PMID:22108575 PMID:22561193 PMID:22947063 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23320809 PMID:23527023 PMID:23555862 PMID:23668481 PMID:24583440 PMID:24838726 PMID:25482600 PMID:25741868 PMID:25818675 PMID:26268049 PMID:26578040 PMID:26791950 PMID:27341347 PMID:28492532 PMID:29382530 PMID:29887139 More...
NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
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Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
ISO
RGD
PMID:19151623
RGD:10395347
NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
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Gucy1b1
guanylate cyclase 1 soluble subunit beta 1
ISO
RGD
PMID:15571982
RGD:10401946
NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916
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Mapt
microtubule-associated protein tau
ISO
protein:increased expression:CSF, serum (human)
RGD
PMID:27929120
RGD:127284887
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
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Nefh
neurofilament heavy chain
ISO
protein:increased expression:CSF (human)
RGD
PMID:27929120
RGD:127284887
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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Nefl
neurofilament light chain
severity
ISO
protein:increased expression:CSF, serum (human) protein:increased expression:CSF (human)
RGD
PMID:27929120 PMID:29391125
RGD:127284887 , RGD:127285384
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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S100b
S100 calcium binding protein B
ISO
protein:increased expression:serum (human)
RGD
PMID:27929120
RGD:127284887
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Ywhag
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ISO
protein:increased expression:CSF (human)
RGD
PMID:27929120
RGD:127284887
NCBI chr12:20,744,500...20,772,828
Ensembl chr12:20,744,535...20,772,827
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Ada
adenosine deaminase
IEP
protein:altered activity:serum,lymphocyte
RGD
PMID:22169893
RGD:152995407
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:19740386
RGD:7794681
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8186310
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Cd163
CD163 molecule
exacerbates
ISO
RGD
PMID:32199911
RGD:127285678
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd36
CD36 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15690042
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27737899
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Il10
interleukin 10
treatment
IDA
RGD
PMID:23993644
RGD:7364979
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il2
interleukin 2
ISO
RGD
PMID:21603642
RGD:5147906
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il4
interleukin 4
susceptibility
ISO
DNA:SNP:promoter:-542C>T (human)
RGD
PMID:18422436
RGD:7829791
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Irak3
interleukin-1 receptor-associated kinase 3
treatment
ISO
RGD
PMID:28954388
RGD:34888230
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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Ltf
lactotransferrin
ISO
RGD
PMID:10030017
RGD:7243953
NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
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Stat2
signal transducer and activator of transcription 2
ameliorates
ISO
associated with influenza A
RGD
PMID:30337919
RGD:41789626
NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
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Tlr2
toll-like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23661603
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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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 chr 8:96,527,871...96,637,385
Ensembl chr 8:96,528,195...96,632,739
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Akt1
AKT serine/threonine kinase 1
treatment
ISO
RGD
PMID:23613163
RGD:38676477
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Cd86
CD86 molecule
ISO
protein:decreased expression:spleen, plasmacytoid dendritic cell (mouse)
RGD
PMID:20949109
RGD:4892562
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cftr
CF transmembrane conductance regulator
ISO
RGD
PMID:28289144
RGD:36049750
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:10228098
RGD:11039478
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Fn1
fibronectin 1
IDA
RGD
PMID:12065530
RGD:7205474
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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Ifnar1
interferon alpha and beta receptor subunit 1
susceptibility
ISO
RGD
PMID:19603548 PMID:19603548
RGD:5490273 , RGD:5490273
NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
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Il10
interleukin 10
ISO
mRNA, protein:increased expression:lung
RGD
PMID:22940620
RGD:7364825
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il15
interleukin 15
ISO
RGD
PMID:18390740
RGD:4996474
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Il1b
interleukin 1 beta
ISO
RGD
PMID:20065029
RGD:4142828
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il33
interleukin 33
ISO
mRNA:increased expression:lung:
RGD
PMID:28401938
RGD:40400699
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
RGD
PMID:20493961
RGD:5131444
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
protein:increased expression:lung (mouse)
RGD
PMID:28663335
RGD:13432209
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
severity
ISO
mRNA:increased expression:lung associated with influenza
RGD
PMID:31782850 PMID:31782850
RGD:39131288 , RGD:39131288
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ripk3
receptor-interacting serine-threonine kinase 3
treatment
ISO
RGD
PMID:25445964
RGD:127229910
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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Sftpb
surfactant protein B
ameliorates
ISO
RGD
PMID:20007532
RGD:151667448
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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Il17a
interleukin 17A
ISO
RGD
PMID:24614654
RGD:9068425
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il18
interleukin 18
treatment
ISO
RGD
PMID:21536791
RGD:8655921
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il33
interleukin 33
treatment
ISO
mRNA,protein:increased expression:skin
RGD
PMID:23892028 PMID:23892028
RGD:40400893 , RGD:40400893
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Ripk3
receptor-interacting serine-threonine kinase 3
ameliorates
ISO
RGD
PMID:27524612
RGD:127229915
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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Serpinf1
serpin family F member 1
severity
ISO
RGD
PMID:25515118
RGD:36174009
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Cd86
CD86 molecule
ISO
associated with Encephalomyelitis, Experimental Autoimmune; protein:increased expression:spleen, dendritic cell (mouse)
RGD
PMID:16861672
RGD:4892553
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Il17a
interleukin 17A
ISO
protein:increased expression:serum (mouse)
RGD
PMID:22384827
RGD:8698662
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Lcn2
lipocalin 2
ISO
mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium
RGD
PMID:16153241
RGD:126781709
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Mx1
MX dynamin like GTPase 1
ISO
associated with pharyngitis;protein:increased expression:blood (human)
RGD
PMID:28077283
RGD:126777682
NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507
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Tlr2
toll-like receptor 2
severity
ISO
RGD
PMID:19179417
RGD:7240559
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tnf
tumor necrosis factor
ISO
associated with Otitis Media
RGD
PMID:8302123
RGD:11554174
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Mir146a
microRNA 146a
IEP
miRNA:decreased expression:brain (rat)
RGD
PMID:26155141
RGD:126925169
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Poldip2
DNA polymerase delta interacting protein 2
treatment
ISO
RGD
PMID:32790044
RGD:124713556
NCBI chr10:63,407,237...63,417,605
Ensembl chr10:63,407,213...63,417,605
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Atm
ATM serine/threonine kinase
exacerbates
ISO
RGD
PMID:27421701
RGD:126779562
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Btk
Bruton tyrosine kinase
ISO
RGD
PMID:30873567
RGD:124715473
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Clec4m
C-type lectin domain family 4 member M
severity
ISO
RGD
PMID:16134084
RGD:39938986
NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:20385761
RGD:39938865
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Ifng
interferon gamma
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il6
interleukin 6
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irak3
interleukin-1 receptor-associated kinase 3
severity
ISO
RGD
PMID:22492852
RGD:35316076
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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Itgb2
integrin subunit beta 2
susceptibility
ISO
RGD
PMID:11390487
RGD:127345090
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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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 chr16:76,355,982...76,380,700
Ensembl chr16:76,355,984...76,381,883
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Marco
macrophage receptor with collagenous structure
exacerbates
ISO
RGD
PMID:15263032
RGD:41412189
NCBI chr13:31,616,278...31,648,521
Ensembl chr13:31,616,278...31,648,521
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Ncr1
natural cytotoxicity triggering receptor 1
severity
ISO
RGD
PMID:21887255
RGD:40818252
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:25624454
RGD:40818422
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
treatment
ISO
associated with immunodeficiency 14
RGD
PMID:30093657
RGD:40890269
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
severity
ISO
RGD
PMID:17322108
RGD:38599154
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
ISO
RGD
PMID:33625952
RGD:127229925
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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Tnf
tumor necrosis factor
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Il18
interleukin 18
treatment
ISO
RGD
PMID:16129701
RGD:8655932
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il5
interleukin 5
severity
ISO
RGD
PMID:9824515
RGD:11354934
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Ace
angiotensin I converting enzyme
ISO
DNA:insertion/deletion:
RGD
PMID:16741935
RGD:40400901
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ifnl1
interferon, lambda 1
ISO
protein:increased expression:blood serum (human)
RGD
PMID:30077763
RGD:126848745
NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
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Irak3
interleukin-1 receptor-associated kinase 3
ISO
associated with colorectal cancer; mRNA:increased expression: plasma, leukocyte (human)
RGD
PMID:28214365
RGD:34888232
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:18008231
RGD:8551830
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Foxp3
forkhead box P3
treatment
ISO
RGD
PMID:27284313
RGD:38456006
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Nefl
neurofilament light chain
ISO
associated with age;protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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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 chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
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Mpo
myeloperoxidase
severity
ISO
RGD
PMID:12085336
RGD:40903072
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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Tnf
tumor necrosis factor
ISO
mRNA, protein:increased expression:spleen, plasma
RGD
PMID:11562071
RGD:10449457
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Rapgef3
Rap guanine nucleotide exchange factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24218580
NCBI chr 7:128,875,772...128,898,203
Ensembl chr 7:128,875,773...128,898,521
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Cd40
CD40 molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Trem1
triggering receptor expressed on myeloid cells 1
ameliorates
ISO
RGD
PMID:17230441
RGD:126928125
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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A2m
alpha-2-macroglobulin
treatment
IDA
RGD
PMID:2424486
RGD:10046036
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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Ace
angiotensin I converting enzyme
severity
ISO
DNA:SNP, insertion/deletion:promoter, intron: (rs4291, rs4646994)
RGD
PMID:28336767
RGD:39939121
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adk
adenosine kinase
ISO
RGD
PMID:8207212
RGD:6482670
NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510
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Adm
adrenomedullin
IDA IMP
RGD
PMID:17318497 PMID:17766482
RGD:1625310 , RGD:1642599
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
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Adrb2
adrenoceptor beta 2
disease_progression treatment
ISO
DNA:polymorphism: :rs1042717(human)
RGD
PMID:19850944 PMID:16076286
RGD:8548487 , RGD:8548529
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Ager
advanced glycosylation end product-specific receptor
ISO
RGD
PMID:21270403
RGD:6767566
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Aqp1
aquaporin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24028651
NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
G
C5ar1
complement C5a receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18063050
NCBI chr 1:76,948,622...76,959,826
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Cckbr
cholecystokinin B receptor
IEP
mRNA:increased expression:myocardium
RGD
PMID:15948246
RGD:2311332
NCBI chr 1:159,771,733...159,781,738
Ensembl chr 1:159,771,733...159,814,881
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Ccl2
C-C motif chemokine ligand 2
disease_progression
ISO
RGD
PMID:28834779
RGD:14995949
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Cd274
CD274 molecule
severity
ISO
protein:increased expression:serum protein:increased expression:lymphocyte, mononcyte
RGD
PMID:29702526 PMID:26063974
RGD:40822808 , RGD:41410786
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Elane
elastase, neutrophil expressed
treatment
IMP
RGD
PMID:18323746
RGD:10450579
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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Eno2
enolase 2
IEP
proteiin:increased expression:serum
RGD
PMID:17083782
RGD:2293748
NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
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F2
coagulation factor II, thrombin
severity
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:2788582
RGD:40822807
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Fancc
FA complementation group C
ISO
RGD
PMID:17404312
RGD:11045879
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
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Gc
GC, vitamin D binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17852808
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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Grk2
G protein-coupled receptor kinase 2
ISO
mRNA:decreased expression:polymorphonuclear leukocyte
RGD
PMID:24465168
RGD:126848796
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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Hmox1
heme oxygenase 1
IDA
RGD
PMID:18208666
RGD:4145362
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hspa1b
heat shock protein family A (Hsp70) member 1B
susceptibility
ISO
associated wit community-acquired pneumonia;DNA:SNP: :1267A>G (human)
RGD
PMID:12771604
RGD:5147601
NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
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Ido1
indoleamine 2,3-dioxygenase 1
severity
ISO
protein:increased activity, increased expression:plasma, heart (human)
RGD
PMID:21765346
RGD:39939075
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Ifng
interferon gamma
ISO
protein:increased expression:plasma
RGD
PMID:25403265
RGD:38455982
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
severity onset
ISO
protein:increased expression:lung (mouse) protein:increased expression:plasma
RGD
PMID:12117955 PMID:12117955 PMID:28659355 PMID:25403265 PMID:7593621
RGD:1598471 , RGD:1598471 , RGD:40890272 , RGD:38455982 , RGD:11049456
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il19
interleukin 19
ISO
RGD
PMID:18246602
RGD:5037232
NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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Il1b
interleukin 1 beta
severity
ISO
protein:increased expression:lung (mouse)
RGD
PMID:28659355
RGD:40890272
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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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:8551736 , RGD:11522756
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il20ra
interleukin 20 receptor subunit alpha
ISO
mRNA:increased expression:multiple
RGD
PMID:18246602
RGD:5037232
NCBI chr 1:14,424,215...14,494,226
Ensembl chr 1:14,451,228...14,493,602
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Il20rb
interleukin 20 receptor subunit beta
ISO
mRNA:increased expression:multiple
RGD
PMID:18246602
RGD:5037232
NCBI chr 8:100,979,085...101,010,829
Ensembl chr 8:100,980,383...101,009,942
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Il27
interleukin 27
ISO
protein, mRNA:increased expression:blood serum, spleen (mouse)
RGD
PMID:20435892
RGD:126790535
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Il6
interleukin 6
treatment
ISO
RGD
PMID:2124237
RGD:11060276
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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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 PMID:17202308
RGD:6903268 , RGD:6903268
NCBI chr 1:228,016,439...228,024,736
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Mc2r
melanocortin 2 receptor
IEP
protein:increased expression:liver (rat)
RGD
PMID:2822467
RGD:6484558
NCBI chr18:62,001,980...62,015,567
Ensembl chr18:62,004,948...62,015,488
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Mif
macrophage migration inhibitory factor
IMP IDA
RGD
PMID:17381395 PMID:17565848
RGD:4891013 , RGD:1641978
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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Mir155
microRNA 155
ISO
RGD
PMID:29979224
RGD:21081538
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir21
microRNA 21
exacerbates ameliorates
ISO
RGD
PMID:28437377 PMID:31189875
RGD:41404641 , RGD:41404698
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir494
microRNA 494
severity
ISO
RGD
PMID:30783439
RGD:150527846
NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793
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Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
susceptibility
ISO
associated with Burns; DNA:missense mutation:cds:m.4216T>C (human)
RGD
PMID:19487983
RGD:5148017
NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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Nfkbia
NFKB inhibitor alpha
treatment
IEP
RGD
PMID:11961112
RGD:126928137
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Nos2
nitric oxide synthase 2
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:8745224 PMID:16601845
RGD:1580268
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nppc
natriuretic peptide C
ISO
protein:increased expression:plasma
RGD
PMID:8117275
RGD:1642297
NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
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Ogg1
8-oxoguanine DNA glycosylase
ISO
RGD
PMID:15677345
RGD:8657146
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Parp1
poly (ADP-ribose) polymerase 1
ISO
RGD
PMID:12445868
RGD:10414070
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Pdcd1
programmed cell death 1
severity
ISO
protein:increased expression:serum protein:increased expression:lymphocyte, mononcyte
RGD
PMID:29702526 PMID:26063974
RGD:40822808 , RGD:41410786
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
severity
ISO
RGD
PMID:28659355
RGD:40890272
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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Plaur
plasminogen activator, urokinase receptor
ISO
RGD
PMID:20693875
RGD:6484122
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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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 chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Ptx3
pentraxin 3
ISO
protein:increased expression:plasma (human)
RGD
PMID:30687307
RGD:38508896
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
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Ren
renin
exacerbates
ISO
protein:increased activity:blood plasma (human)
RGD
PMID:31723628
RGD:125097502
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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RT1-Da
RT1 class II, locus Da
disease_progression
ISO
associated with Burns CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28771573 PMID:17568330 PMID:15644645
RGD:5490160 , RGD:5490203
NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
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RT1-Db1
RT1 class II, locus Db1
ISO
mRNA:decreased expression:blood
RGD
PMID:15644645
RGD:5490203
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Sell
selectin L
IEP
protein:increased expression:plasma
RGD
PMID:19375498
RGD:5685700
NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
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Serpinc1
serpin family C member 1
treatment
ISO
RGD
PMID:16732381
RGD:1599323
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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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 chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Serpinf1
serpin family F member 1
severity
ISO
protein:decreased expression:plasma (human)
RGD
PMID:6158114
RGD:36174004
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Serping1
serpin family G member 1
treatment
ISO
RGD
PMID:8172580
RGD:8661646
NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
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Sftpb
surfactant protein B
ISO
associated with Pneumonia;DNA:polymorphism: :1580C>T (human)
RGD
PMID:15190959
RGD:4143404
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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Socs1
suppressor of cytokine signaling 1
severity
ISO
RGD
PMID:19469017
RGD:150573701
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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Tbxa2r
thromboxane A2 receptor
treatment
IMP
RGD
PMID:7816742
RGD:11059599
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
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Tfpi
tissue factor pathway inhibitor
treatment
ISO
RGD
PMID:11776329
RGD:11062085
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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Thpo
thrombopoietin
ISO
protein:increased expression:serum:
RGD
PMID:20467749
RGD:10449021
Ensembl chr11:80,182,820...80,188,167
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Tnf
tumor necrosis factor
treatment
IEP ISO
protein:increased expression:peritoneal macrophage, cell surface (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20054000 PMID:2213560 PMID:12622907
RGD:10449465 , RGD:1598936
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Trem1
triggering receptor expressed on myeloid cells 1
ISO
mRNA:decreased expression:polymorphonuclear leukocyte
RGD
PMID:24465168
RGD:126848796
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Zc3h12a
zinc finger CCCH type containing 12A
ISO
RGD
PMID:23422584
RGD:39938961
NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351
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Il10
interleukin 10
no_association severity
ISO
protein:increased expression:tear DNA:SNP:promoter:−1082G>A (human) DNA:SNP:promoter:−819T>C, −592A>C (human) DNA:SNP, haplotype:promoter:−1082G>A (human) DNA:haplotype: :
RGD
PMID:18628987 PMID:11023480 PMID:11023480 PMID:15789056 PMID:17947295
RGD:7365037 , RGD:7365085 , RGD:7365085 , RGD:7365072 , RGD:7365053
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il17a
interleukin 17A
ISO
mRNA:increased expression:conjunctiva (human)
RGD
PMID:21911461
RGD:9068420
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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RT1-CE13
RT1 class I, locus CE13
ISO
DNA:polymorphisms:cds:HLA-B*14 (human, Tanzanian)
RGD
PMID:18824733
RGD:7364877
NCBI chr20:3,314,830...3,318,106
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Tnf
tumor necrosis factor
ISO
DNA:SNP, haplotypes:promoter:−308G>A (human)
RGD
PMID:17330135
RGD:8548830
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Col1a1
collagen type I alpha 1 chain
ISO
mRNA:decreased expression:tarsal conjunctiva (human)
RGD
PMID:20375326
RGD:8552676
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Aqp4
aquaporin 4
ISO
RGD
PMID:21771203 PMID:23999580
RGD:5148008 , RGD:8696028
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Il6
interleukin 6
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Vps37a
VPS37A subunit of ESCRT-I
ISO
ClinVar Annotator: match by term: Idiopathic transverse myelitis
ClinVar
PMID:25741868 PMID:28492532 PMID:29473047
NCBI chr16:51,736,170...51,775,384
Ensembl chr16:51,737,481...51,775,390
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C3
complement C3
ISO
protein:increased processing:plasma
RGD
PMID:7561187
RGD:11040775
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034
RGD:38549361
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Foxp3
forkhead box P3
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:28101786 PMID:20945034
RGD:38456004 , RGD:38549361
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
RGD
PMID:11984596
RGD:10045967
NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609
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Ifnl1
interferon, lambda 1
ISO
associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:29990995
RGD:126848769
NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
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Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28378248
RGD:127285561
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Il27
interleukin 27
ISO
associated with HTLV-I Infections;mRNA:decreased expression:blood (human)
RGD
PMID:24041428
RGD:126790519
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Klrk1
killer cell lectin like receptor K1
susceptibility
ISO
DNA:SNPs:3'utr, 5'utr: (rs1049174,rs12821887,rs12819494) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Mmp2
matrix metallopeptidase 2
ISO
associated with Sjogren's Syndrome
RGD
PMID:10464559
RGD:8657078
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Nfkb1
nuclear factor kappa B subunit 1
susceptibility
ISO
DNA:SNP:5'utr: (rs3138045) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
RGD
PMID:25729550
RGD:36174012
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Tnfrsf18
TNF receptor superfamily member 18
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:28101786 PMID:20945034
RGD:38456004 , RGD:38549361
NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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Zeb1
zinc finger E-box binding homeobox 1
ISS
OMIM:159580
MouseDO
NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
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Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:9062973
RGD:5147851
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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Vdr
vitamin D receptor
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Ager
advanced glycosylation end product-specific receptor
severity
ISO
RGD
PMID:22698798
RGD:6767307
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Btnl2
butyrophilin-like 2
susceptibility no_association
ISO
DNA:SNPs,haplotypes: : rs3763313, rs9268494, rs9268492(human)
RGD
PMID:20176143 PMID:17347014
RGD:9685035 , RGD:9685036
NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341
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Cbs
cystathionine beta synthase
severity
ISO
protein:increased expression:macrophages (mouse)
RGD
PMID:31992699 PMID:31992699
RGD:40903052 , RGD:40903052
NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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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 chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
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Ccl2
C-C motif chemokine ligand 2
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl4
C-C motif chemokine ligand 4
severity
HEP
associated with human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human)
RGD
PMID:31276515
RGD:41404639
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Cd209c
CD209c molecule
ISO
RGD
PMID:21454357 PMID:18167547
RGD:5131181 , RGD:5131186
NCBI chr12:1,936,233...1,943,841
Ensembl chr12:1,936,396...1,942,040
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Cd209d
CD209d molecule
susceptibility
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:15564514 PMID:15838506 PMID:16379498 PMID:25741868
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Cd274
CD274 molecule
ISO
mRNA, protein:increased expression:blood, neutrophil
RGD
PMID:21509782
RGD:41412173
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Cd86
CD86 molecule
ISO
protein:increased expression:lung (mouse)
RGD
PMID:18292558
RGD:4892329
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cd8a
CD8 subunit alpha
susceptibility
ISO
associated with human immunodeficiency virus infectious disease;mRNA:increased expression:whole blood (human) mRNA:decreased expression:blood (human)
RGD
PMID:26725873 PMID:27553407
RGD:124715445 RGD:124715450
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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Cebpb
CCAAT/enhancer binding protein beta
ISO
mRNA:increased expression:lung, spleen (mouse)
RGD
PMID:28558034
RGD:40903038
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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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 (mouse)
RGD
PMID:12828554
RGD:5491205
NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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Cish
cytokine inducible SH2-containing protein
susceptibility
ISO
ClinVar Annotator: match by term: Tuberculosis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:20484391
NCBI chr 8:107,972,306...107,977,254
Ensembl chr 8:107,972,306...107,977,250
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Coro1a
coronin 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16040207
NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:serum
RGD
PMID:19281538
RGD:5135308
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Cyp2b3
cytochrome P450, family 2, subfamily b, polypeptide 3
treatment
ISO
DNA:SNPs: :c.516G>T (rs3745274) and c.785A>G (rs2279343)(human) associated with human immunodeficiency virus infectious disease; ;DNA:SNP: :516G>T (rs3745274)(human)
RGD
PMID:28389387 PMID:30239753
RGD:41410886 , RGD:41412160
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
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Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment
ISO
DNA:polymorphisms:: CYP2C19*17(rs12248560),CYP2C19*2 (c.681C>A; rs4244285)(human)
RGD
PMID:27393733
RGD:124713542
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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Ereg
epiregulin
susceptibility
ISO
DNA:SNP:intron: (rs7675690) (human)
RGD
PMID:22170233
RGD:39457686
NCBI chr14:17,027,287...17,041,062
Ensembl chr14:17,027,287...17,041,062
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Has1
hyaluronan synthase 1
ISO
RGD
PMID:19876387
RGD:9588638
NCBI chr 1:58,693,411...58,705,653
Ensembl chr 1:58,693,411...58,705,397
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Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Ifng
interferon gamma
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:10663562 PMID:11053629 PMID:12788577 PMID:18414898
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Ifngr1
interferon gamma receptor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
OMIM CTD ClinVar RGD
PMID:9389728 PMID:10192386 PMID:11583830 PMID:12516030 PMID:16690980 PMID:18171304 PMID:19488747 PMID:20015550 PMID:25741868 PMID:28492532 PMID:28902581 PMID:19575238 More...
RGD:4144122
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
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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 chr16:18,620,228...18,633,207
Ensembl chr16:18,620,770...18,632,769
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Il15
interleukin 15
ISO
mRNA:altered expression:lung, spleen
RGD
PMID:16367949
RGD:4987456
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Il22
interleukin 22
ISO
RGD
PMID:21767990
RGD:5147402
NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186
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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:26282876 PMID:25511588
RGD:11086047 , RGD:126790514
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Il33
interleukin 33
ISO
associated with Pleural Effusion;protein:increased expression:pleural biopsy
RGD
PMID:25755791
RGD:40400701
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Irak3
interleukin-1 receptor-associated kinase 3
ISO
mRNA, protein:increased expression:sputum (human)
RGD
PMID:19535630
RGD:36049800
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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Irgm
immunity-related GTPase M
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr10:33,233,513...33,241,594
Ensembl chr10:33,233,455...33,241,578
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Kir3dl1
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
susceptibility
ISO
DNA:deletion:cds
RGD
PMID:23073291
RGD:38676470
NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050
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Klrk1
killer cell lectin like receptor K1
treatment
ISO
RGD
PMID:16619285 PMID:23922903
RGD:39018558 , RGD:39128143
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Mapkapk3
MAPK activated protein kinase 3
ISO
ClinVar Annotator: match by term: Tuberculosis, susceptibility to
ClinVar
PMID:20484391
NCBI chr 8:107,929,754...107,963,638
Ensembl chr 8:107,929,762...107,963,568
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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 chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nrg1
neuregulin 1
susceptibility
ISO
DNA:SNP, haplotype: (rs16879814)
RGD
PMID:25919455
RGD:39456091
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:27865385
RGD:41412174
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
RGD
PMID:30514491
RGD:38599199
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
ISO
RGD
PMID:29892302
RGD:127229926
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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RT1-Ba
RT1 class II, locus Ba
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26829749
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-DQB1*05
RGD
PMID:19030725
RGD:36049809
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-CE15
RT1 class I, locus CE15
susceptibility
ISO
associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-A31
RGD
PMID:19030725
RGD:36049809
NCBI chr20:3,275,575...3,279,074
Ensembl chr20:3,264,172...3,279,563 Ensembl chr20:3,264,172...3,279,563
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RT1-CE16
RT1 class I, locus CE16
susceptibility
ISO
associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-A31
RGD
PMID:19030725
RGD:36049809
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism (human) associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-BRB1*10
RGD
PMID:21251479 PMID:19030725 PMID:17153701
RGD:5147605 , RGD:36049809 , RGD:5147633
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Slc11a1
solute carrier family 11 member 1
susceptibility
ISO
DNA:insertion, polymorphism:3' utr:p.D543N (human) ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:16103355 PMID:16597321 PMID:25741868 PMID:19863441 PMID:15118671
RGD:5684931 , RGD:1331525
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Sp110
SP110 nuclear body protein
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:16803959 PMID:16816019 PMID:17149599 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 9:86,200,503...86,225,355
Ensembl chr 9:86,200,503...86,222,670
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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
NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:15863395
RGD:1581371
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29791904
RGD:39128196
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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Tirap
TIR domain containing adaptor protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
CTD OMIM ClinVar
PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868
NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432
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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 chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
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Tlr2
toll-like receptor 2
susceptibility
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:14979495 PMID:16081826 PMID:22992740
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:12218133
RGD:4144821
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr6
toll-like receptor 6
susceptibility
ISO
DNA:missense mutations:cds:multiple (human)
RGD
PMID:18091991
RGD:7246918
NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:20537163
RGD:4143229
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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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 chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30202016
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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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 chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Cd86
CD86 molecule
ISO
protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:16272336
RGD:4892560
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cxcl2
C-X-C motif chemokine ligand 2
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:21277990
RGD:5135025
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Ifng
interferon gamma
ISO
protein:increased expression:serum
RGD
PMID:26853540
RGD:14974256
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il17a
interleukin 17A
ISO
RGD
PMID:20585449
RGD:4888521
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:25296161
RGD:39458039
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:17202364
RGD:5130727
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Cftr
CF transmembrane conductance regulator
susceptibility
ISO
DNA:repeats: :CA repeats(human)
RGD
PMID:16078047
RGD:35673348
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Lta
lymphotoxin alpha
susceptibility
ISO
DNA:SNP::
RGD
PMID:11120931
RGD:36049756
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms::
RGD
PMID:11120931
RGD:36049756
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :HLA-DRB1*04:05, rs7765379(human) DNA:polymorphisms::
CTD RGD
PMID:25383971 PMID:25383971 PMID:11120931
RGD:36174025 , RGD:36049756
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:25667264
RGD:11061268
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:-308G>A (rs1800629) (human)
RGD
PMID:11120931
RGD:36049756
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Cd1d1
CD1d1 molecule
ISO
protein:increased expression:B cell (human)
RGD
PMID:22347409
RGD:127345101
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNPs:multiple:Gabonese(human)
RGD
PMID:22288822
RGD:7204674
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Il5
interleukin 5
resistance
ISO
RGD
PMID:9697734
RGD:7241010
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Stat6
signal transducer and activator of transcription 6
severity
ISO
DNA:SNP:enhancer: (rs324013)
RGD
PMID:18273035
RGD:7243977
NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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Cxcr1
C-X-C motif chemokine receptor 1
ISO
RGD
PMID:21151974
RGD:7207862
NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
RGD
PMID:18401338
RGD:7257688
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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Hspa1b
heat shock protein family A (Hsp70) member 1B
ISO
DNA: SNP: :g.1267A>G
RGD
PMID:20379347
RGD:7242733
NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
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Il18
interleukin 18
IEP
protein:increased expression:urine
RGD
PMID:19171043
RGD:2311084
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1a
interleukin 1 alpha
IEP ISO
protein:increased expression:urine
RGD
PMID:19171043 PMID:21690238
RGD:2311084 , RGD:6907113
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
IEP ISO
protein:increased expression:urine
RGD
PMID:19171043 PMID:20886104
RGD:2311084 , RGD:7175340
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Lcn2
lipocalin 2
disease_progression ameliorates treatment
ISO
protein:increased expression:urine:
RGD
PMID:25398327 PMID:24937428 PMID:24937428 PMID:24937428
RGD:126779559 , RGD:126779579 , RGD:126779579 , RGD:126779579
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9011564
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6254450
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Tlr2
toll-like receptor 2
susceptibility
ISO
DNA:polymorphism: :p.R753Q (human)
RGD
PMID:18001294
RGD:7240561
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:snp:cds:p.D299G (human)
RGD
PMID:19543401
RGD:7246906
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Crp
C-reactive protein
disease_progression
ISO
RGD
PMID:14636287
RGD:9491594
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Adrb2
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Becn1
beclin 1
ISO
associated with HIV infections;protein:increased expression:brain
RGD
PMID:21592995
RGD:6483316
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:18158733
RGD:5688146
NCBI chr 8:123,556,286...123,561,841
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Cd274
CD274 molecule
ISO
protein:increased expression: myeloid cells, microglia, astrocytes
RGD
PMID:20876353 PMID:31105690
RGD:6893671 , RGD:40818239
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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E2f1
E2F transcription factor 1
ISO
associated with HIV Infections; protein:increased expression:brain, neuron, cytoplasm:
RGD
PMID:11896158
RGD:10401094
NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:30770561
RGD:39939045
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Il1rl1
interleukin 1 receptor-like 1
severity
ISO
mRNA:increased expression:brain
RGD
PMID:27334012 PMID:27334012
RGD:39457934 , RGD:39457934
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il33
interleukin 33
ISO
mRNA,protein:increased expression:brain,F4/80+ cell
RGD
PMID:27334012
RGD:39457934
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Mmp9
matrix metallopeptidase 9
ISO
associated with influenza; protein:increased expression:serum
RGD
PMID:17529876
RGD:5130920
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Oprm1
opioid receptor, mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
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Pdcd1
programmed cell death 1
ISO
protein:increased expression: CD8 T celll
RGD
PMID:31105690
RGD:40818239
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:23853597
RGD:39938863
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
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Mbl2
mannose binding lectin 2
ISO
DNA:SNP:cds:
RGD
PMID:17470593
RGD:8693700
NCBI chr 1:228,016,439...228,024,736
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Ifih1
interferon induced with helicase C domain 1
ISO
mRNA:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Lcn2
lipocalin 2
ISO
mRNA,protein:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Rig1
RNA sensor RIG-1
ISO
mRNA:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819
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Rnasel
ribonuclease L
disease_progression
ISO
RGD
PMID:16809306
RGD:40902815
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
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Sting1
stimulator of interferon response cGAMP interactor 1
severity
ISO
RGD
PMID:31415679
RGD:39128224
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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Tlr3
toll-like receptor 3
ISO
mRNA:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Ccr5
C-C motif chemokine receptor 5
susceptibility
ISO
ClinVar Annotator: match by term: West Nile virus, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 PMID:9140404 PMID:9207783 PMID:9466996 PMID:9511755 PMID:9585595 PMID:9600249 PMID:9768627 PMID:10520641 PMID:10615909 PMID:10803840 PMID:11081537 PMID:11403804 PMID:11403814 PMID:11517319 PMID:11781692 PMID:12874407 PMID:15744032 PMID:15863470 PMID:16216086 PMID:16248677 PMID:16418398 PMID:19017985 PMID:19073967 PMID:28492532 More...
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Irf5
interferon regulatory factor 5
disease_progression
ISO
RGD
PMID:25031348
RGD:40924561
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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Mavs
mitochondrial antiviral signaling protein
severity
ISO
RGD
PMID:28094802
RGD:40903045
NCBI chr 3:118,451,650...118,466,094
Ensembl chr 3:118,451,743...118,466,094
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Rfc1
replication factor C subunit 1
susceptibility
ISO
DNA:silent mutation:CDS:p.P847P (rs2066786) (human)
RGD
PMID:21881118
RGD:41410434
NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
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S100b
S100 calcium binding protein B
ISO
RGD
PMID:19790244
RGD:5508797
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Cd163
CD163 molecule
ISO
protein:increased expression:duodenum, macrophage (human)
RGD
PMID:19664628
RGD:149735573
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Fgf2
fibroblast growth factor 2
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:16008728
RGD:2315863
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Foxp3
forkhead box P3
severity
IEP
associated with Pseudomonas aeruginosa infection;mRNA:increased expression:wound fluid:
RGD
PMID:22141756
RGD:38599139
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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