RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | parasitic infectious disease |
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Accession: | DOID:1398
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browse the term
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Definition: | A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host. (DO) |
Synonyms: | exact_synonym: | Parasitic Disease; Parasitic Diseases; ectoparasitic disease; parasite infection; parasite infections; parasitemia; parasitic infection; parasitic infections |
| primary_id: | MESH:D010272 |
| xref: | EFO:0001067; ICD10CM:H44.12; ICD9CM:360.13; NCI:C34587 |
| subset: | RGD_JBrowse_slim |
For additional species annotation, visit the
Alliance of Genome Resources.
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Tlr4 |
toll-like receptor 4 |
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IEP |
mRNA,protein:increased expression:cornea |
RGD |
PMID:21155840 |
RGD:7777095 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Bcl2 |
BCL2, apoptosis regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10861090 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9546790 |
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NCBI chr 4:157,668,878...157,695,366
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Tnfrsf8 |
TNF receptor superfamily member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9379333 |
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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 |
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ISO |
associated with Cystic Fibrosis |
RGD |
PMID:17898016 |
RGD:4145612 |
NCBI chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819
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Ccr1 |
C-C motif chemokine receptor 1 |
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ISO |
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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 |
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ISO |
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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 |
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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 |
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ISO |
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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 |
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ISO |
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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 |
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ISO |
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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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Cd274 |
CD274 molecule |
treatment |
ISO |
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RGD |
PMID:30315719 |
RGD:41410787 |
NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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RT1-Bb |
RT1 class II, locus Bb |
disease_progression |
ISO |
DNA:polymorphism: :HLA-DQB1*02(human) |
RGD |
PMID:9756400 |
RGD:36174003 |
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 |
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ISO |
DNA:polymorphisms: :HLA-DRB1*03, DRB1*11(human) |
RGD |
PMID:9756400 |
RGD:36174003 |
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 |
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ISO |
mRNA:increased expression:PBMC |
RGD |
PMID:30141853 |
RGD:15090814 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Il2 |
interleukin 2 |
treatment |
ISO |
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RGD |
PMID:10862314 |
RGD:14928216 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il23a |
interleukin 23 subunit alpha |
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ISO |
mRNA:increased expression:liver (mouse) |
RGD |
PMID:26809113 |
RGD:39458041 |
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:polymorphism, haplotype: :HLA-DQB1*04, HLA-DQB1*02 |
RGD |
PMID:25938667 |
RGD:36049810 |
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, haplotype: :HLA-DRB1*08 |
RGD |
PMID:25938667 |
RGD:36049810 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Tnf |
tumor necrosis factor |
treatment |
ISO |
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RGD |
PMID:10862314 |
RGD:14928216 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Il25 |
interleukin 25 |
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ISO |
protein:decreased expression:intestine |
RGD |
PMID:28246365 |
RGD:39128243 |
NCBI chr15:28,408,842...28,411,676
Ensembl chr15:28,408,842...28,411,893
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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 |
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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 |
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ISO |
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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 |
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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 |
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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 |
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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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Cd40 |
CD40 molecule |
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ISO |
protein:increased expression:plasmacytoid dendritic cell |
RGD |
PMID:20702728 |
RGD:5490530 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Ccl5 |
C-C motif chemokine ligand 5 |
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IEP |
mRNA, protein:increased expression:blood vessel endothelial cell |
RGD |
PMID:15710456 |
RGD:2307183 |
NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
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Ccr2 |
C-C motif chemokine receptor 2 |
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ISO |
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RGD |
PMID:19741601 |
RGD:8661685 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Cd209d |
CD209d molecule |
treatment |
ISO |
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RGD |
PMID:32391004 |
RGD:39939012 |
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Foxp3 |
forkhead box P3 |
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ISO |
mRNA:decreased expression:placenta: |
RGD |
PMID:21923716 |
RGD:38501105 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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ISO |
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RGD |
PMID:8881756 |
RGD:12910478 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Ido1 |
indoleamine 2,3-dioxygenase 1 |
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ISO |
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RGD |
PMID:31231617 |
RGD:39939039 |
NCBI chr16:67,430,684...67,442,459
Ensembl chr16:67,430,578...67,442,730
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Il17a |
interleukin 17A |
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ISO |
mRNA,protein:increased expression:placenta: |
RGD |
PMID:21923716 |
RGD:38501105 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il21 |
interleukin 21 |
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ISO |
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RGD |
PMID:23667536 |
RGD:127285360 |
NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
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Il23a |
interleukin 23 subunit alpha |
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ISO |
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RGD |
PMID:15265921 |
RGD:39457943 |
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Il2rb |
interleukin 2 receptor subunit beta |
ameliorates |
ISO |
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RGD |
PMID:11286020 |
RGD:42724468 |
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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Il6 |
interleukin 6 |
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ISO |
mRNA:increased expression:placenta: |
RGD |
PMID:21923716 |
RGD:38501105 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Ldlr |
low density lipoprotein receptor |
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ISO |
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RGD |
PMID:18316222 |
RGD:5490254 |
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Mir146a |
microRNA 146a |
ameliorates |
ISO |
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RGD |
PMID:24582962 |
RGD:126925172 |
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Nr4a2 |
nuclear receptor subfamily 4, group A, member 2 |
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ISO |
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RGD |
PMID:25855987 |
RGD:11057198 |
NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877
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Rorc |
RAR-related orphan receptor C |
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ISO |
mRNA:increased expression:placenta: |
RGD |
PMID:21923716 |
RGD:38501105 |
NCBI chr 2:182,009,707...182,034,910
Ensembl chr 2:182,009,286...182,034,907
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Sting1 |
stimulator of interferon response cGAMP interactor 1 |
severity |
ISO |
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RGD |
PMID:31416833 |
RGD:39128220 |
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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Ager |
advanced glycosylation end product-specific receptor |
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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 |
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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 |
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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 |
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ISO |
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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 |
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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 |
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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 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Aspergillosis, susceptibility to |
ClinVar OMIM |
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 |
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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 |
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RGD |
PMID:20879853 |
RGD:9495929 |
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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Il15 |
interleukin 15 |
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ISO |
DNA:polymorphism (human) |
RGD |
PMID:16893395 |
RGD:4981337 |
NCBI chr19:25,640,013...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Mbl1 |
mannose binding lectin 1 |
susceptibility |
ISO |
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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 |
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RGD |
PMID:20064561 |
RGD:8694071 |
NCBI chr 1:228,016,439...228,024,736
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S100b |
S100 calcium binding protein B |
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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 |
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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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Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
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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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C3 |
complement C3 |
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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 |
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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 |
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ISO |
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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 |
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ISO |
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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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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 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12050215 |
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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 |
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ISO |
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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 |
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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 |
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ISO |
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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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G |
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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G |
Ncr1 |
natural cytotoxicity triggering receptor 1 |
disease_progression |
ISO |
|
RGD |
PMID:27736647 |
RGD:40818241 |
NCBI chr 1:69,614,744...69,622,570
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G |
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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G |
Clec7a |
C-type lectin domain containing 7A |
susceptibility |
ISO |
ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis |
ClinVar OMIM |
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897
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G |
Il17f |
interleukin 17F |
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ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 6 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:21350122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30290665 PMID:32185379 More...
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NCBI chr 9:23,190,094...23,201,482
Ensembl chr 9:23,190,100...23,201,482
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G |
Traf3ip2 |
Traf3 interacting protein 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 8 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20953186 PMID:20953188 PMID:22513239 PMID:22581863 PMID:24033266 PMID:24120361 PMID:25741868 PMID:28492532 More...
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NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
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G |
Brk1 |
BRICK1 subunit of SCAR/WAVE actin nucleating complex |
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ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856
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G |
Cidec |
cell death-inducing DFFA-like effector c |
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ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173
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G |
Creld1 |
cysteine-rich with EGF-like domains 1 |
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ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499
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G |
Emc3 |
ER membrane protein complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,663,065...146,678,976
Ensembl chr 4:146,663,067...146,679,029
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G |
Fancd2 |
FA complementation group D2 |
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ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
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G |
Fancd2os |
FANCD2 opposite strand |
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ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
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G |
Il17rc |
interleukin 17 receptor C |
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ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25918342 PMID:28492532 More...
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NCBI chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442
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G |
Il17re |
interleukin 17 receptor E |
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ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,604,547...146,618,206
Ensembl chr 4:146,605,526...146,618,206
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G |
Jagn1 |
jagunal homolog 1 |
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ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288
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G |
Prrt3 |
proline-rich transmembrane protein 3 |
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ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,641,173...146,650,487
Ensembl chr 4:146,641,173...146,650,317
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G |
Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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G |
Ace2 |
angiotensin I 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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G |
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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G |
Cast |
calpastatin |
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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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G |
Cd36 |
CD36 molecule |
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ISO |
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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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G |
Clec12a |
C-type lectin domain family 12, member A |
ameliorates |
ISO |
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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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G |
Il1rl1 |
interleukin 1 receptor-like 1 |
treatment |
ISO |
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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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G |
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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G |
Jak3 |
Janus kinase 3 |
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ISO |
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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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G |
Lta |
lymphotoxin alpha |
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ISO |
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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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G |
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...60,303,024
Ensembl chr16:59,250,854...60,296,884
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
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ISO |
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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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G |
Prkaa2 |
protein kinase AMP-activated catalytic subunit alpha 2 |
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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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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
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ISO |
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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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G |
Nfkb1 |
nuclear factor kappa B subunit 1 |
severity |
ISO |
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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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G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
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IEP |
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RGD |
PMID:17187651 |
RGD:7349350 |
NCBI chr 1:196,796,257...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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G |
Il10 |
interleukin 10 |
treatment |
IDA |
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RGD |
PMID:24055715 |
RGD:7364866 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il23a |
interleukin 23 subunit alpha |
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ISO |
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RGD |
PMID:28356392 |
RGD:39457935 |
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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G |
Mbl2 |
mannose binding lectin 2 |
severity |
ISO |
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RGD |
PMID:26745156 |
RGD:11076757 |
NCBI chr 1:228,016,439...228,024,736
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G |
Pcna |
proliferating cell nuclear antigen |
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IEP |
protein:increased expression:myocardium: |
RGD |
PMID:12435130 |
RGD:10448990 |
NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
disease_progression |
ISO |
mRNA:increased expression:heart (mouse) mRNA:increased expression:heart (human) |
RGD |
PMID:29666415 PMID:29666415 PMID:29666415 |
RGD:38599151, RGD:38599151, RGD:38599151 |
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphism:exon (human) |
RGD |
PMID:19811437 |
RGD:5147589 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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IEP |
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RGD |
PMID:16844401 |
RGD:2307145 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl3 |
C-C motif chemokine ligand 3 |
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IEP |
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RGD |
PMID:16844401 |
RGD:2307145 |
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
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IMP |
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RGD |
PMID:20452453 |
RGD:4889906 |
NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
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G |
Chrm2 |
cholinergic receptor, muscarinic 2 |
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ISO |
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RGD |
PMID:9148906 |
RGD:5509585 |
NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103
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G |
F2 |
coagulation factor II |
|
ISO |
protein:increased expression:blood plasma (human) |
RGD |
PMID:20699256 PMID:21866301 |
RGD:5147778, RGD:40818435 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
Hspa4 |
heat shock protein family A (Hsp70) member 4 |
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ISO |
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RGD |
PMID:21801456 |
RGD:6218957 |
NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001
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G |
Ifng |
interferon gamma |
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IDA |
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RGD |
PMID:10684988 |
RGD:10755744 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Il23a |
interleukin 23 subunit alpha |
susceptibility |
ISO |
|
RGD |
PMID:23182712 |
RGD:39457956 |
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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G |
Prg2 |
proteoglycan 2, pro eosinophil major basic protein |
|
ISO |
mRNA:increased expression:plancenta (human) |
RGD |
PMID:29545200 |
RGD:40902989 |
NCBI chr 3:70,062,535...70,066,102
Ensembl chr 3:70,062,535...70,066,101
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphisms:exon (human) |
RGD |
PMID:19811437 |
RGD:5147589 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Soat1 |
sterol O-acyltransferase 1 |
ameliorates |
ISO |
DNA:SNP:exon: rs1044925 (human) |
RGD |
PMID:31236660 |
RGD:126925205 |
NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
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G |
Vim |
vimentin |
severity |
IEP ISO |
protein:increased expression:plasma |
RGD |
PMID:22199233 PMID:22199233 |
RGD:6480538, RGD:6480538 |
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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G |
Il17ra |
interleukin 17 receptor A |
|
ISO |
ClinVar Annotator: match by term: Familial Candidiasis, Recessive |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
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G |
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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G |
Stat1 |
signal transducer and activator of transcription 1 |
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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...
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NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28600438 PMID:29758562 PMID:32969189 PMID:35412596 More...
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NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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G |
Fas |
Fas cell surface death receptor |
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IEP |
mRNA, protein:increased expression:liver |
RGD |
PMID:18427836 |
RGD:2315733 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Faslg |
Fas ligand |
|
IEP |
mRNA, protein:increased expression:liver |
RGD |
PMID:18427836 |
RGD:2315733 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Il33 |
interleukin 33 |
|
ISO |
mRNA,protein:increased expression:liver, serum: protein:increased expression:serum: |
RGD |
PMID:26944417 PMID:26944417 |
RGD:39939001, RGD:39939001 |
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
|
RGD |
PMID:28784165 |
RGD:15090810 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Il2rb |
interleukin 2 receptor subunit beta |
exacerbates |
ISO |
|
RGD |
PMID:20460838 |
RGD:42724464 |
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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G |
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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G |
Ifna1 |
interferon, alpha 1 |
susceptibility |
ISO |
DNA:SNP:promoter: -1823G>A (rs1332190)(human) |
RGD |
PMID:26694082 |
RGD:36174029 |
NCBI chr 5:103,095,767...103,098,260
Ensembl chr 5:103,097,356...103,097,925
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G |
Cd274 |
CD274 molecule |
treatment |
ISO |
|
RGD |
PMID:29058791 |
RGD:41412178 |
NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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|
G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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|
G |
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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|
|
G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
DNA:polymorphisms, haplotype:promoter,exon: |
RGD |
PMID:19827946 |
RGD:12910843 |
NCBI chr 1:228,016,439...228,024,736
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|
G |
Mir21 |
microRNA 21 |
|
ISO |
RNA:increased expression:ileum |
RGD |
PMID:25838265 |
RGD:40925950 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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|
|
G |
Cat |
catalase |
|
ISO |
protein:decreased activity:erythrocyte: |
RGD |
PMID:9892499 |
RGD:9479188 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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|
G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20102417 |
|
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccr1 |
C-C motif chemokine receptor 1 |
|
ISO |
|
RGD |
PMID:12874303 |
RGD:5688168 |
NCBI chr 8:123,556,286...123,561,841
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|
G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
mRNA:increased expression:foot, lymph node |
RGD |
PMID:12874303 |
RGD:5688168 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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|
G |
Ccr5 |
C-C motif chemokine receptor 5 |
no_association |
ISO |
DNA:frameshift mutation: :p.S185_T195del (rs333) (human) |
RGD |
PMID:23632983 PMID:17214851 |
RGD:8549764, RGD:8549765 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Cd163 |
CD163 molecule |
|
ISO |
mRNA, protein:increased expression:skin of body, blood plasma, CD14-positive monocyte (human) |
RGD |
PMID:32023254 |
RGD:127345130 |
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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G |
Cd274 |
CD274 molecule |
|
ISO |
|
RGD |
PMID:16358363 |
RGD:41410801 |
NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
DNA:SNPs: :rs1061237, rs2586488 (human) |
RGD |
PMID:25562121 |
RGD:11041176 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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|
G |
Foxp3 |
forkhead box P3 |
|
ISO |
mRNA:increased expression:Peripheral blood mononuclear cell: |
RGD |
PMID:29205403 |
RGD:38455981 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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|
G |
Ifng |
interferon gamma |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:8154019 PMID:9234779 PMID:20102417 PMID:27999013 |
RGD:40890273 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Il10 |
interleukin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:Peripheral blood mononuclear cell: |
CTD RGD |
PMID:20102417 PMID:29205403 |
RGD:38455981 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il13 |
interleukin 13 |
treatment |
ISO |
|
RGD |
PMID:12739821 PMID:18924210 |
RGD:8549536, RGD:8549561 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il17a |
interleukin 17A |
|
ISO |
mRNA:increased expression:Peripheral blood mononuclear cell: |
RGD |
PMID:29205403 |
RGD:38455981 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20102417 |
|
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il23a |
interleukin 23 subunit alpha |
|
ISO |
|
RGD |
PMID:29078003 |
RGD:39457938 |
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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|
G |
Il4 |
interleukin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20102417 |
|
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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|
G |
Klrk1 |
killer cell lectin like receptor K1 |
treatment |
ISO |
associated with lymphocytic choriomeningitis |
RGD |
PMID:26290604 |
RGD:39128165 |
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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|
G |
Lta |
lymphotoxin alpha |
no_association |
ISO |
DNA:SNP:intron:252A>G (human) |
RGD |
PMID:16950634 |
RGD:8548800 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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G |
Ltb |
lymphotoxin beta |
|
ISO |
|
RGD |
PMID:17911622 |
RGD:8548820 |
NCBI chr20:3,627,536...3,629,381
Ensembl chr20:3,627,537...3,629,381
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|
G |
Mmp2 |
matrix metallopeptidase 2 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21091666 PMID:21091666 |
RGD:8657030 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Pdcd1lg2 |
programmed cell death 1 ligand 2 |
|
ISO |
|
RGD |
PMID:16358363 |
RGD:41410801 |
NCBI chr 1:227,158,941...227,223,938
Ensembl chr 1:227,158,941...227,223,938
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|
G |
Pik3cd |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta |
treatment |
ISO |
|
RGD |
PMID:27999013 |
RGD:40890273 |
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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G |
Slc11a1 |
solute carrier family 11 member 1 |
|
ISO |
DNA:insertion/deletion (human) |
RGD |
PMID:20089160 |
RGD:5684930 |
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
protein:increased activity:erythrocyte: |
RGD |
PMID:9892499 |
RGD:9479188 |
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Stat4 |
signal transducer and activator of transcription 4 |
|
ISO |
|
RGD |
PMID:10458767 |
RGD:8661703 |
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
protein:decreased expression:skin: |
RGD |
PMID:20493664 |
RGD:7794748 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
protein:decreased expression:skin: |
RGD |
PMID:20493664 |
RGD:7794748 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
protein:decreased expression:skin: |
RGD |
PMID:20493664 |
RGD:7794748 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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|
G |
Tnf |
tumor necrosis factor |
no_association |
ISO |
DNA:SNP:promoter:-308G>A (rs1800629) (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20102417 PMID:16950634 |
RGD:8548800 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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|
G |
Il4 |
interleukin 4 |
treatment |
ISO |
|
RGD |
PMID:25726962 |
RGD:14696685 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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|
G |
RT1-Bb |
RT1 class II, locus Bb |
|
ISO |
DNA:polymorphisms: :HLA- DQB1*0.9, DQB1*02(human) |
RGD |
PMID:22308705 |
RGD:36174019 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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|
G |
RT1-Db1 |
RT1 class II, locus Db1 |
|
ISO |
DNA:polymorphism: :HLA-DRB1*03, DRB1*07(human) |
RGD |
PMID:22308705 |
RGD:36174019 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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|
G |
Tlr2 |
toll-like receptor 2 |
disease_progression |
ISO |
DNA:mutation:cds:Arg753Gln(human) mRNA:increased expression:peripheral blood monocyte: |
RGD |
PMID:31437685 PMID:21923667 |
RGD:15090825, RGD:18182935 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
mRNA:increased expression:peripheral blood monocyte: |
RGD |
PMID:21923667 |
RGD:18182935 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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|
G |
Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
|
ISO |
|
RGD |
PMID:2142987 |
RGD:5128834 |
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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|
G |
Alb |
albumin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24270252 |
|
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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|
G |
Hbb |
hemoglobin subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24270252 |
|
NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
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|
G |
Il5 |
interleukin 5 |
|
ISO |
mRNA: increased expression: : peritoneal lavage cells |
RGD |
PMID:21912714 |
RGD:5687176 |
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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G |
Tf |
transferrin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24270252 |
|
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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G |
Il21 |
interleukin 21 |
|
ISO |
protein:increased expression:CD4-positive helper T cell (mouse) |
RGD |
PMID:26597007 |
RGD:11086452 |
NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
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|
G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16374615 PMID:29255076 |
RGD:14975099 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Il10 |
interleukin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16374615 |
|
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16374615 |
|
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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|
G |
Il2 |
interleukin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16374615 |
|
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il5 |
interleukin 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16374615 |
|
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
|
|
G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16374615 |
|
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
|
|
G |
Nfkb1 |
nuclear factor kappa B subunit 1 |
severity |
ISO |
|
RGD |
PMID:20086086 |
RGD:40902842 |
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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|
G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
|
RGD |
PMID:15910421 |
RGD:7241086 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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|
G |
Ctsb |
cathepsin B |
|
IEP |
protein:decreased activity:liver (rat) |
RGD |
PMID:19696938 |
RGD:2315504 |
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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|
G |
Glud1 |
glutamate dehydrogenase 1 |
|
IEP |
protein:increased expression:serum |
RGD |
PMID:10431747 |
RGD:6484593 |
NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
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|
G |
Il1rl1 |
interleukin 1 receptor-like 1 |
|
ISO |
|
RGD |
PMID:27592711 |
RGD:40400889 |
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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|
G |
Prg2 |
proteoglycan 2, pro eosinophil major basic protein |
|
ISO |
|
RGD |
PMID:24626328 |
RGD:40903014 |
NCBI chr 3:70,062,535...70,066,102
Ensembl chr 3:70,062,535...70,066,101
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|
|
G |
Cd274 |
CD274 molecule |
|
ISO |
mRNA, protein:increased expression:liver |
RGD |
PMID:25907244 |
RGD:41412175 |
NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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|
G |
Igf2 |
insulin-like growth factor 2 |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:12927688 |
RGD:5509967 |
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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G |
Pdcd1 |
programmed cell death 1 |
|
ISO |
mRNA, protein:increased expression:liver |
RGD |
PMID:25907244 |
RGD:41412175 |
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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|
|
G |
Cd209a |
CD209a molecule |
|
ISO |
mRNA,protein:decreased expression:spleen,liver (mouse) |
RGD |
PMID:29386115 PMID:24729611 |
RGD:39938990, RGD:39938995 |
NCBI chr12:1,822,663...1,828,246
Ensembl chr12:1,822,663...1,828,246
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|
G |
Clec4m |
C-type lectin domain family 4 member M |
|
ISO |
|
RGD |
PMID:18981244 |
RGD:39938988 |
NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
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|
G |
Krt18 |
keratin 18 |
disease_progression |
ISO |
protein:increased expression:serum (mouse, human) |
RGD |
PMID:21357724 |
RGD:21406434 |
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
|
|
G |
Mir146a |
microRNA 146a |
|
ISO |
miRNA:increased expression:liver, hepatic stellate cell (mouse) miRNA:increased expression:liver (mouse) miRNA:increased expression:liver, macrophage (mouse) |
RGD |
PMID:25116007 PMID:25051829 PMID:27780686 |
RGD:126925174, RGD:126925180, RGD:126925179 |
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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|
G |
Serpinf1 |
serpin family F member 1 |
|
ISO |
|
RGD |
PMID:9038736 |
RGD:30296660 |
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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|
|
G |
Il1rl1 |
interleukin 1 receptor-like 1 |
|
ISO |
|
RGD |
PMID:22329990 |
RGD:39938827 |
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
|
|
G |
Il33 |
interleukin 33 |
|
ISO |
mRNA,protein:increased expression:Bronchoalveolar lavage, epithelium, macrophage |
RGD |
PMID:22329990 |
RGD:39938827 |
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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|
G |
Tff2 |
trefoil factor 2 |
|
ISO |
|
RGD |
PMID:22329990 |
RGD:39938827 |
NCBI chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619
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|
|
G |
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 More...
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|
NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
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|
G |
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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|
G |
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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G |
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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G |
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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G |
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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|
G |
Stat1 |
signal transducer and activator of transcription 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome |
OMIM ClinVar |
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: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:28815025 PMID:30317461 PMID:30442829 PMID:31362757 PMID:31448411 PMID:32582194 PMID:33679782 More...
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NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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Arvcf |
ARVCF, delta catenin family member |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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NCBI chr11:82,588,137...82,645,805
Ensembl chr11:82,587,881...82,645,805
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Atp6v1e1 |
ATPase H+ transporting V1 subunit E1 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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NCBI chr 4:154,022,360...154,044,486
Ensembl chr 4:154,022,358...154,044,584
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Bcl2l13 |
Bcl2-like 13 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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NCBI chr 4:154,113,198...154,136,353
Ensembl chr 4:154,113,198...154,134,720
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Cdc45 |
cell division cycle 45 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
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Comt |
catechol-O-methyltransferase |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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Gsc2 |
goosecoid homeobox 2 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 | ClinVar Annotator: match by term: Immunodeficiency 51 |
OMIM 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...
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NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
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LOC498122 |
similar to CG15908-PA |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
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Mical3 |
microtubule associated monooxygenase, calponin and LIM domain containing 3 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305
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Septin5 |
septin 5 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Tmem121b |
transmembrane protein 121B |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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NCBI chr 4:153,695,193...153,700,497
Ensembl chr 4:153,698,194...153,699,912
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Tssk2 |
testis-specific serine kinase 2 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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NCBI chr11:83,086,578...83,087,933
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Tuba8 |
tubulin, alpha 8 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144
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Ifng |
interferon gamma |
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ISO |
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RGD |
PMID:29950724 |
RGD:14974257 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Nfkb1 |
nuclear factor kappa B subunit 1 |
disease_progression |
ISO |
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RGD |
PMID:12370384 |
RGD:40902988 |
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 |
treatment |
ISO |
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RGD |
PMID:12370384 |
RGD:40902988 |
NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
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Ager |
advanced glycosylation end product-specific receptor |
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ISO |
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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 |
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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 |
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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 |
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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 |
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ISO |
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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 |
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ISO |
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RGD |
PMID:24054721 |
RGD:10450528 |
NCBI chr X:13,360,583...13,392,517
Ensembl chr X:13,359,430...13,392,586
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Cyp2c6v1 |
cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 |
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 |
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ISO |
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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 |
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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 |
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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 |
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ISO |
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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 |
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ISO |
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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 |
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ISO |
protein: increased expression: kidney |
RGD |
PMID:21063074 |
RGD:7207265 |
NCBI chr 1:182,659,047...182,709,495
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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Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
IDA |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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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Ager |
advanced glycosylation end product-specific receptor |
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ISO |
protein:increased expression:brain |
RGD |
PMID:25014011 |
RGD:8695986 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Arg1 |
arginase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21232540 |
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NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
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G |
Btk |
Bruton tyrosine kinase |
susceptibility |
ISO |
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RGD |
PMID:28783468 |
RGD:124715477 |
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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G |
C3 |
complement C3 |
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ISO |
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RGD |
PMID:15378355 |
RGD:7401274 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
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ISO |
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RGD |
PMID:10899907 |
RGD:8661227 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
disease_progression |
ISO |
associated with HIV Infections;protein:increased expression:blood, T cell |
RGD |
PMID:10553079 PMID:17457607 |
RGD:8551832, RGD:8551841 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Crp |
C-reactive protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17218153 |
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NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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G |
Dusp1 |
dual specificity phosphatase 1 |
treatment |
ISO |
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RGD |
PMID:21471446 |
RGD:7771536 |
NCBI chr10:16,680,489...16,683,276
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G |
Dusp6 |
dual specificity phosphatase 6 |
treatment |
ISO |
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RGD |
PMID:21471446 |
RGD:7771536 |
NCBI chr 7:34,092,848...34,097,186
Ensembl chr 7:34,092,943...34,097,185
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G |
Ifng |
interferon gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16540374 PMID:17218153 PMID:2145107 |
RGD:7829781 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Il10 |
interleukin 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16540374 PMID:20404924 |
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NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il18 |
interleukin 18 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16879623 PMID:10768930 |
RGD:8655909 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il2 |
interleukin 2 |
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ISO |
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RGD |
PMID:6224858 |
RGD:8693326 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il21 |
interleukin 21 |
exacerbates |
ISO |
protein:increased expression:popliteal lymph node (mouse) |
RGD |
PMID:22429963 |
RGD:127285547 |
NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
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G |
Il27 |
interleukin 27 |
exacerbates |
ISO |
|
RGD |
PMID:25466588 |
RGD:126790552 |
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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G |
Il4 |
interleukin 4 |
treatment |
ISO |
protein:increased expression:serum |
RGD |
PMID:2145107 PMID:2521244 |
RGD:7829781, RGD:7829820 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16540374 |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Itgb2 |
integrin subunit beta 2 |
ameliorates |
ISO |
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RGD |
PMID:14502280 |
RGD:127285813 |
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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G |
Mcl1 |
MCL1 apoptosis regulator, BCL2 family member |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26670606 |
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NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
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G |
Slc6a4 |
solute carrier family 6 member 4 |
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ISO |
lupoid leishmaniasis;protein:increased expression:skin of body (human) |
RGD |
PMID:23989888 |
RGD:36947873 |
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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G |
Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16540374 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfrsf18 |
TNF receptor superfamily member 18 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20139272 |
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NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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G |
Tnfsf4 |
TNF superfamily member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10637281 |
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NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
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G |
Trem1 |
triggering receptor expressed on myeloid cells 1 |
severity |
ISO |
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RGD |
PMID:24453980 |
RGD:126925972 |
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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G |
Vdr |
vitamin D receptor |
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ISO |
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RGD |
PMID:17551101 |
RGD:8158083 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Ccl20 |
C-C motif chemokine ligand 20 |
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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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G |
Cxcr2 |
C-X-C motif chemokine receptor 2 |
severity |
ISO |
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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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G |
Mir146a |
microRNA 146a |
exacerbates |
ISO |
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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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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
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ISO |
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RGD |
PMID:21387014 |
RGD:5508754 |
NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Plaur |
plasminogen activator, urokinase receptor |
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ISO |
mRNA:increased expression:skin |
RGD |
PMID:19461880 PMID:19461880 |
RGD:6483813, RGD:6483813 |
NCBI chr 1:80,053,441...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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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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G |
Cd40 |
CD40 molecule |
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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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G |
Cd40lg |
CD40 ligand |
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ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:16463218 |
RGD:11352252 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Il1b |
interleukin 1 beta |
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IDA |
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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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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
treatment susceptibility |
ISO |
DNA:SNP: :c3435C>T(human) DNA:hypermethylation:promoter DNA:SNPs,haplotype: :rs2032582, rs1128503 (human) DNA:haplotype: :1236C>T, 2677G>T,3435C>T (human) |
RGD |
PMID:28934955 PMID:19331170 PMID:28422980 PMID:17015054 |
RGD:39456120, RGD:39457680, RGD:39457679, RGD:39456123 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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G |
Ace |
angiotensin I converting enzyme |
severity |
ISO |
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RGD |
PMID:31234939 |
RGD:39939120 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Ackr1 |
atypical chemokine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Plasmodium vivax, resistance to |
ClinVar OMIM |
PMID:7663520 PMID:8547665 PMID:8651934 PMID:10570183 PMID:10791881 PMID:17304246 PMID:18179887 PMID:18621010 PMID:19180233 PMID:19620399 PMID:20932074 More...
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NCBI chr13:85,782,396...85,786,002
Ensembl chr13:85,782,398...85,783,983
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G |
Aicda |
activation-induced cytidine deaminase |
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ISO |
protein:increased expression: B cell |
RGD |
PMID:27980783 |
RGD:30310233 |
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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G |
Ank1 |
ankyrin 1 |
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ISS |
OMIM:609148 | OMIM:611162 |
MouseDO |
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NCBI chr16:68,876,294...69,054,812
Ensembl chr16:68,877,504...69,054,759
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G |
Apoe |
apolipoprotein E |
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ISO |
DNA:missense mutations:cds:p.C112R, p.C158R (human) |
RGD |
PMID:24116184 |
RGD:11039486 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Aqp4 |
aquaporin 4 |
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ISS |
OMIM:609148 | OMIM:611162 |
MouseDO |
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NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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G |
Cbs |
cystathionine beta synthase |
susceptibility |
ISO |
DNA:insertion:cds: (844ins68) (human) |
RGD |
PMID:27198213 |
RGD:40903062 |
NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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G |
Cd163 |
CD163 molecule |
exacerbates severity |
ISO |
protein:increased expression:blood plasma (human) protein:altered expression:blood plasma (human) |
RGD |
PMID:22290142 PMID:18632918 |
RGD:127285797, RGD:149735529 |
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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G |
Cd1d1 |
CD1d1 molecule |
ameliorates exacerbates |
ISO |
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RGD |
PMID:12938235 PMID:24703850 |
RGD:127345117, RGD:127345121 |
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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G |
Cd36 |
CD36 molecule |
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ISO |
ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to | ClinVar Annotator: match by term: Malaria, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:10890433 PMID:18305138 PMID:19403559 PMID:25741868 |
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NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G |
Cd40 |
CD40 molecule |
severity |
ISO |
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RGD |
PMID:11485931 |
RGD:11352239 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
severity |
ISO |
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RGD |
PMID:11485931 |
RGD:11352239 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Cish |
cytokine inducible SH2-containing protein |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:20484391 |
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NCBI chr 8:107,972,306...107,977,254
Ensembl chr 8:107,972,306...107,977,250
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G |
Crp |
C-reactive protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8730300 |
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NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
treatment disease_progression |
ISO |
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RGD |
PMID:28892065 PMID:28892065 |
RGD:38455986, RGD:38455986 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Ephb2 |
Eph receptor B2 |
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ISO |
mRNA:increased expression:liver |
RGD |
PMID:25784101 |
RGD:127285023 |
NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
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G |
Ephb3 |
Eph receptor B3 |
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IEP |
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RGD |
PMID:25784101 |
RGD:127285023 |
NCBI chr11:79,840,668...79,859,467
Ensembl chr11:79,840,668...79,859,370
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G |
Ephb6 |
Eph receptor B6 |
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ISO |
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RGD |
PMID:25784101 |
RGD:127285023 |
NCBI chr 4:70,491,973...70,507,230
Ensembl chr 4:70,491,973...70,507,230
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G |
Fcgr2a |
Fc gamma receptor 2A |
susceptibility |
ISO |
DNA:missense mutation:cds:p.H131R (human) ClinVar Annotator: match by term: Malaria, severe, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:8636449 PMID:9843982 PMID:10675363 PMID:15367919 PMID:19915573 PMID:19965803 PMID:24033266 PMID:19965803 More...
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RGD:5147921 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Fcgr2b |
Fc gamma receptor 2B |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, resistance to CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:12115230 PMID:15459183 PMID:16115811 PMID:16170323 PMID:17435165 PMID:20385827 More...
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NCBI chr13:83,191,253...83,207,776
Ensembl chr13:83,193,163...83,207,778
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G |
Foxp3 |
forkhead box P3 |
disease_progression |
ISO |
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RGD |
PMID:19338000 PMID:16169501 |
RGD:38455985, RGD:38455992 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
susceptibility severity |
ISO |
DNA:SNPs: :multiple ClinVar Annotator: match by term: Malaria, susceptibility to DNA:point mutation:cds:c.968T>C (human) |
OMIM ClinVar RGD |
PMID:5448 PMID:16832 PMID:1303173 PMID:1459579 PMID:1551674 PMID:1562739 PMID:1631957 PMID:1805484 PMID:1924316 PMID:1945893 PMID:1953767 PMID:1972698 PMID:1978554 PMID:1978555 PMID:2253938 PMID:2263506 PMID:2321910 PMID:2393028 PMID:2503817 PMID:2572288 PMID:2633878 PMID:2836867 PMID:2849540 PMID:2912069 PMID:3198117 PMID:3338798 PMID:3393536 PMID:3446582 PMID:4283789 PMID:4359638 PMID:4379606 PMID:4388132 PMID:4392654 PMID:4435794 PMID:4721339 PMID:4837298 PMID:4974311 PMID:5081671 PMID:5305539 PMID:5369703 PMID:5485383 PMID:5641629 PMID:5673160 PMID:5770172 PMID:5844610 PMID:6015571 PMID:6698555 PMID:6714986 PMID:7203486 PMID:7327562 PMID:7390473 PMID:7440223 PMID:7577654 PMID:7590755 PMID:7789945 PMID:7803800 PMID:7806085 PMID:7825590 PMID:7947239 PMID:7947250 PMID:7949118 PMID:7959686 PMID:8118045 PMID:8193373 PMID:8244337 PMID:8370579 PMID:8447319 PMID:8471773 PMID:8490627 PMID:8537082 PMID:8611726 PMID:8807321 PMID:8860013 PMID:8956035 PMID:9017974 PMID:9192788 PMID:9233561 PMID:9250351 PMID:9342374 PMID:9589612 PMID:9858856 PMID:10221015 PMID:10502785 PMID:10643148 PMID:10734064 PMID:10782016 PMID:11024211 PMID:11146567 PMID:11243133 PMID:11400791 PMID:11445808 PMID:11499668 PMID:11601226 PMID:11793482 PMID:12028056 PMID:12064920 PMID:12105841 PMID:12367584 PMID:12497642 PMID:12737938 PMID:12768444 PMID:14014720 PMID:14278484 PMID:14505231 PMID:15223006 PMID:15315792 PMID:15349799 PMID:15502081 PMID:15625830 PMID:15727905 PMID:15766741 PMID:15906717 PMID:16088936 PMID:16119988 PMID:16136268 PMID:16143877 PMID:16155737 PMID:16329560 PMID:16356170 PMID:16513531 PMID:16528451 PMID:16607506 PMID:16777444 PMID:16927025 PMID:17587269 PMID:17726510 PMID:17959407 PMID:18046504 PMID:18226470 PMID:18270558 PMID:18329300 PMID:18452027 PMID:18568599 PMID:19589177 PMID:19594365 PMID:20007901 PMID:20200584 PMID:20203002 PMID:20236109 PMID:20602793 PMID:21446359 PMID:21479984 PMID:21507207 PMID:21637675 PMID:21677401 PMID:21874587 PMID:21931771 PMID:21989994 PMID:22018328 PMID:22164279 PMID:22165289 PMID:22171972 PMID:22293322 PMID:22307442 PMID:22452742 PMID:22552160 PMID:22770933 PMID:22906047 PMID:22906837 PMID:22963789 PMID:23006493 PMID:23144702 PMID:23479361 PMID:23926329 PMID:23965028 PMID:24033266 PMID:24134566 PMID:24460025 PMID:24551785 PMID:24586352 PMID:25071003 PMID:25201310 PMID:25326637 PMID:25440321 PMID:25536053 PMID:25541721 PMID:25548459 PMID:25741868 PMID:25775246 PMID:26060661 PMID:26226515 PMID:26633385 PMID:26823837 PMID:26990548 PMID:27053284 PMID:27213370 PMID:27287612 PMID:27519946 PMID:27535533 PMID:27853304 PMID:27880809 PMID:27884173 PMID:27980749 PMID:28195434 PMID:28492532 PMID:28852037 PMID:29072585 PMID:29141760 PMID:29300386 PMID:29339739 PMID:30045279 PMID:30077011 PMID:30096395 PMID:30161219 PMID:30314477 PMID:30315739 PMID:30674319 PMID:31489982 PMID:31525211 PMID:31862010 PMID:31863082 PMID:32180910 PMID:32425388 PMID:32860008 PMID:33051526 PMID:33072997 PMID:33413378 PMID:33636823 PMID:34620237 PMID:34659341 PMID:34762759 PMID:34895177 PMID:34934109 PMID:34966093 PMID:35313968 PMID:35840819 PMID:25015414 PMID:24615128 More...
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RGD:10449111, RGD:10449115 |
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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G |
Gypa |
glycophorin A |
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ISO |
|
OMIM |
|
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NCBI chr19:27,450,311...27,465,940
Ensembl chr19:27,450,308...27,465,822
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G |
Gypc |
glycophorin C |
|
ISO |
ClinVar Annotator: match by term: Malaria, resistance to |
ClinVar OMIM |
PMID:1991173 PMID:5011657 PMID:8157284 PMID:11719395 PMID:12469115 PMID:21061946 More...
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NCBI chr18:24,160,738...24,193,408
Ensembl chr18:24,160,739...24,193,204
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G |
Hbb |
hemoglobin subunit beta |
resistance |
ISO |
ClinVar Annotator: match by term: Malaria, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to |
ClinVar OMIM RGD |
PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:700140 PMID:893136 PMID:909565 PMID:1112610 PMID:1301203 PMID:1353069 PMID:1376298 PMID:1390250 PMID:1427786 PMID:1428944 PMID:1463768 PMID:1483699 PMID:1610915 PMID:1634236 PMID:1634368 PMID:1680789 PMID:1709134 PMID:1732017 PMID:1734721 PMID:1769663 PMID:1802884 PMID:1917531 PMID:1960615 PMID:1967205 PMID:1986365 PMID:1986379 PMID:2004023 PMID:2030155 PMID:2123063 PMID:2197725 PMID:2200760 PMID:2200762 PMID:2239966 PMID:2296310 PMID:2298457 PMID:2393712 PMID:2412200 PMID:2446680 PMID:2458145 PMID:2467892 PMID:2577233 PMID:2579336 PMID:2582106 PMID:2606476 PMID:2606727 PMID:2634667 PMID:2713503 PMID:2867271 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2898142 PMID:2898460 PMID:2898955 PMID:2903765 PMID:2987224 PMID:2987809 PMID:3031297 PMID:3048433 PMID:3170235 PMID:3267215 PMID:3354556 PMID:3422218 PMID:3462712 PMID:3623977 PMID:3690667 PMID:3691763 PMID:3752087 PMID:3821796 PMID:3840039 PMID:3859465 PMID:3957690 PMID:4232783 PMID:4351905 PMID:4683875 PMID:5481775 PMID:5609824 PMID:5619995 PMID:5658717 PMID:5863839 PMID:5915974 PMID:6019668 PMID:6162860 PMID:6166632 PMID:6188062 PMID:6189507 PMID:6190800 PMID:6198908 PMID:6246994 PMID:6264391 PMID:6264477 PMID:6268660 PMID:6270663 PMID:6272289 PMID:6275383 PMID:6280057 PMID:6285354 PMID:6304979 PMID:6310991 PMID:6316272 PMID:6320218 PMID:6434492 PMID:6457059 PMID:6572978 PMID:6583683 PMID:6583702 PMID:6584911 PMID:6585831 PMID:6695908 PMID:6714226 PMID:6745619 PMID:6821648 PMID:6826539 PMID:6859036 PMID:6896219 PMID:6985481 PMID:7076659 PMID:7137165 PMID:7151176 PMID:7177196 PMID:7229029 PMID:7312624 PMID:7384810 PMID:7395858 PMID:7522523 PMID:7558878 PMID:7668219 PMID:7908281 PMID:7993409 PMID:8095930 PMID:8199027 PMID:8199597 PMID:8201467 PMID:8262525 PMID:8330981 PMID:8373896 PMID:8435318 PMID:8454469 PMID:8462981 PMID:8518184 PMID:8602996 PMID:8619407 PMID:8718703 PMID:8839873 PMID:8917506 PMID:9028827 PMID:9048934 PMID:9101288 PMID:9113933 PMID:9140720 PMID:9163586 PMID:9225979 PMID:9342003 PMID:9401495 PMID:9450794 PMID:9490703 PMID:9536098 PMID:9556665 PMID:9586437 PMID:9653159 PMID:9834244 PMID:9845707 PMID:9859938 PMID:9949622 PMID:10203101 PMID:10335989 PMID:10583251 PMID:10602954 PMID:10612821 PMID:10815781 PMID:11001883 PMID:11179419 PMID:11186258 PMID:11425418 PMID:11545326 PMID:11559932 PMID:11713529 PMID:11741197 PMID:11830454 PMID:11857746 PMID:11880644 PMID:11939508 PMID:11939510 PMID:12000828 PMID:12124399 PMID:12144057 PMID:12149194 PMID:12383672 PMID:12702481 PMID:12764548 PMID:12818227 PMID:12850492 PMID:13066514 PMID:13108995 PMID:13115700 PMID:13369537 PMID:13464827 PMID:13618691 PMID:13685866 PMID:13716853 PMID:13852872 PMID:14084634 PMID:14405428 PMID:14492555 PMID:14555304 PMID:14576320 PMID:14613965 PMID:14734204 PMID:14808148 PMID:15000665 PMID:15108284 PMID:15114532 PMID:15181845 PMID:15278762 PMID:15395398 PMID:15470211 PMID:15481886 PMID:15543018 PMID:15654898 PMID:15658184 PMID:15973412 PMID:16001361 PMID:16044458 PMID:16103715 PMID:16114182 PMID:16175509 PMID:16199547 PMID:16291734 PMID:16311287 PMID:16421096 PMID:16470532 PMID:16750922 PMID:16821247 PMID:17145605 PMID:17278112 PMID:17287491 PMID:17331080 PMID:17365006 PMID:17486505 PMID:17576681 PMID:17774955 PMID:17932132 PMID:17994378 PMID:18024613 PMID:18048408 PMID:18192399 PMID:18294253 PMID:18568278 PMID:18603555 PMID:18976160 PMID:19000664 PMID:19061217 PMID:19092326 PMID:19254853 PMID:19429541 PMID:19440680 PMID:19465909 PMID:19486366 PMID:19657842 PMID:19727720 PMID:19758965 PMID:19841268 PMID:19958185 PMID:19960060 PMID:20132300 PMID:20181291 PMID:20236848 PMID:20301551 PMID:20301599 PMID:20305663 PMID:20353354 PMID:20395516 PMID:20412082 PMID:20437613 PMID:20492708 PMID:20628988 PMID:20704537 PMID:20737602 PMID:20788973 PMID:20861612 PMID:20954261 PMID:20981092 PMID:21119755 PMID:21131035 PMID:21194254 PMID:21228398 PMID:21250876 PMID:21302591 PMID:21329186 PMID:21389146 PMID:21417574 PMID:21509314 PMID:21529713 PMID:21732929 PMID:21797703 PMID:22010933 PMID:22028795 PMID:22075726 PMID:22110956 PMID:22188014 PMID:22200002 PMID:22244832 PMID:22260787 PMID:22271886 PMID:22335963 PMID:22392582 PMID:22563936 PMID:22625666 PMID:22957039 PMID:22975760 PMID:23065522 PMID:23144702 PMID:23162295 PMID:23234478 PMID:23297836 PMID:23321370 PMID:23348723 PMID:23425204 PMID:23457306 PMID:23590658 PMID:23591685 PMID:23637309 PMID:23729725 PMID:24033266 PMID:24052702 PMID:24055728 PMID:24099628 PMID:24106605 PMID:24123366 PMID:24200214 PMID:24245819 PMID:24368026 PMID:24369358 PMID:24493127 PMID:24581976 PMID:24616059 PMID:24616209 PMID:24777453 PMID:24857915 PMID:24880717 PMID:25000193 PMID:25016698 PMID:25023084 PMID:25023085 PMID:25087612 PMID:25089872 PMID:25113778 PMID:25135424 PMID:25155404 PMID:25332589 PMID:25370867 PMID:25408857 PMID:25480500 PMID:25488433 PMID:25525159 PMID:25572186 PMID:25617386 PMID:25666204 PMID:25741868 PMID:25849334 PMID:25856402 PMID:25976460 PMID:26029792 PMID:26041415 PMID:26044735 PMID:26084319 PMID:26097845 PMID:26193974 PMID:26275168 PMID:26290351 PMID:26291967 PMID:26366554 PMID:26372199 PMID:26436569 PMID:26467025 PMID:26554253 PMID:26554862 PMID:26661037 PMID:26897028 PMID:26956563 PMID:27117572 PMID:27199182 PMID:27207683 PMID:27251090 PMID:27254408 PMID:27263053 PMID:27427187 PMID:27690257 PMID:27821015 PMID:27823958 PMID:27829304 PMID:27884173 PMID:27979672 PMID:28251416 PMID:28356267 PMID:28361595 PMID:28366028 PMID:28385923 PMID:28391758 PMID:28492532 PMID:28635337 PMID:28667000 PMID:28670940 PMID:28802248 PMID:28865746 PMID:29319890 PMID:29484903 PMID:29695942 PMID:30002798 PMID:30033078 PMID:30249157 PMID:30315176 PMID:30604644 PMID:30843739 PMID:31096791 PMID:31130284 PMID:31134759 PMID:31268351 PMID:31456457 PMID:31553106 PMID:31589614 PMID:31714438 PMID:31718331 PMID:31890591 PMID:32039214 PMID:32126744 PMID:32190157 PMID:32472543 PMID:32527859 PMID:32581362 PMID:32860008 PMID:33091040 PMID:33116287 PMID:33851260 PMID:34092029 PMID:34334128 PMID:34426522 PMID:34749363 PMID:36073655 PMID:11001883 More...
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RGD:1600894 |
NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
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G |
Hmox1 |
heme oxygenase 1 |
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ISS |
OMIM:609148 | OMIM:611162 |
MouseDO |
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NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Hp |
haptoglobin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8730300 PMID:16597321 |
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NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G |
Icam1 |
intercellular adhesion molecule 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to | ClinVar Annotator: match by term: Malaria, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9259284 PMID:9861406 PMID:10417733 PMID:10699175 PMID:23609612 PMID:25741868 More...
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NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Ifng |
interferon gamma |
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ISS |
OMIM:609148 | OMIM:611162 |
MouseDO |
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NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: Malaria, susceptibility to |
ClinVar |
PMID:1945893 PMID:3198117 PMID:7803800 PMID:8244337 PMID:8471773 PMID:9589612 PMID:10502785 PMID:11601226 PMID:12064920 PMID:15727905 PMID:16329560 PMID:16607506 PMID:25741868 PMID:28492532 PMID:29300386 PMID:29339739 PMID:30045279 PMID:30315739 PMID:31489982 PMID:31863082 PMID:33051526 PMID:33072997 PMID:34659341 PMID:34762759 PMID:34895177 PMID:35313968 PMID:35840819 More...
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NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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G |
Il1rl1 |
interleukin 1 receptor-like 1 |
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ISO |
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RGD |
PMID:28359899 |
RGD:39938859 |
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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G |
Il21 |
interleukin 21 |
exacerbates |
ISO |
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RGD |
PMID:25763578 |
RGD:127285358 |
NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
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G |
Il27 |
interleukin 27 |
ameliorates |
ISO |
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RGD |
PMID:24522137 PMID:26968425 |
RGD:126790512, RGD:11530371 |
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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G |
Il33 |
interleukin 33 |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:28359899 |
RGD:39938859 |
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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G |
Kir3dl1 |
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 |
severity |
ISO |
DNA:deletion:cds |
RGD |
PMID:21889618 |
RGD:38676475 |
NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050
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G |
Ltbr |
lymphotoxin beta receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15788153 |
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NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539
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G |
Mapkapk3 |
MAPK activated protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Malaria, susceptibility to |
ClinVar |
PMID:20484391 |
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NCBI chr 8:107,929,754...107,963,638
Ensembl chr 8:107,929,762...107,963,568
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G |
Mir122 |
microRNA 122 |
treatment |
ISO |
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RGD |
PMID:28123381 |
RGD:35673288 |
NCBI chr18:58,758,703...58,758,787
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G |
Mir142 |
microRNA 142 |
treatment |
ISO |
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RGD |
PMID:28123381 |
RGD:35673288 |
NCBI chr10:72,557,864...72,557,950
Ensembl chr10:72,557,857...72,557,967
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G |
Mirlet7a1 |
microRNA let-7a-1 |
treatment |
ISO |
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RGD |
PMID:28123381 |
RGD:35673288 |
NCBI chr17:16,113,766...16,113,859
Ensembl chr17:16,113,768...16,113,867
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G |
Mirlet7c1 |
microRNA let-7c-1 |
treatment |
ISO |
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RGD |
PMID:28123381 |
RGD:35673288 |
NCBI chr11:16,201,163...16,201,256
Ensembl chr11:16,201,158...16,201,265
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G |
Mki67 |
marker of proliferation Ki-67 |
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ISO |
associated with Lung Neoplasms |
RGD |
PMID:21931708 |
RGD:6483517 |
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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G |
Ncr3 |
natural cytotoxicity triggering receptor 3 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, severe, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:17208487 |
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NCBI chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799
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G |
Nos2 |
nitric oxide synthase 2 |
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ISO |
ClinVar Annotator: match by term: Malaria, resistance to | ClinVar Annotator: match by term: Malaria, severe, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to |
ClinVar OMIM |
PMID:9457101 PMID:12433515 PMID:31995689 |
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NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Pklr |
pyruvate kinase L/R |
susceptibility |
ISO ISS |
DNA:mutations, haplotype:multiple (human) OMIM:609148 | OMIM:611162 DNA:missense mutation:cds:p.I90N (mouse) |
MouseDO RGD |
PMID:20377593 PMID:14595440 |
RGD:11535999, RGD:11537407 |
NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
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G |
Prf1 |
perforin 1 |
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ISO |
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RGD |
PMID:21525386 |
RGD:6482803 |
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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G |
Procr |
protein C receptor |
disease_progression |
ISO |
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RGD |
PMID:27671831 |
RGD:126848795 |
NCBI chr 3:144,254,596...144,258,863
Ensembl chr 3:144,254,380...144,258,903
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G |
Slc19a1 |
solute carrier family 19 member 1 |
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ISO |
DNA:SNP::g.80G>A (human) |
RGD |
PMID:27198213 |
RGD:40903062 |
NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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G |
Slc4a1 |
solute carrier family 4 member 1 (Diego blood group) |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Malaria, cerebral, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to |
CTD ClinVar |
PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:6338046 PMID:7689982 PMID:7919393 PMID:7949112 PMID:8434259 PMID:8704215 PMID:9207478 PMID:9312167 PMID:9854053 PMID:10403343 PMID:10926824 PMID:10942416 PMID:12087557 PMID:12750988 PMID:12938018 PMID:14618420 PMID:16107207 PMID:16420521 PMID:17215882 PMID:18266205 PMID:19229254 PMID:19289107 PMID:19625994 PMID:20068363 PMID:20151848 PMID:20421175 PMID:20799361 PMID:22126643 PMID:22518001 PMID:22609520 PMID:23255290 PMID:24652967 PMID:25741868 PMID:28045035 PMID:28188436 PMID:28233610 PMID:28492532 PMID:28542241 PMID:29627839 PMID:30192042 PMID:30230413 PMID:31147440 PMID:31672324 PMID:31959358 PMID:32071839 PMID:33532864 PMID:35738466 More...
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NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
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G |
Spp1 |
secreted phosphoprotein 1 |
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ISO |
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RGD |
PMID:16552072 |
RGD:1581333 |
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
Tbx21 |
T-box transcription factor 21 |
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ISO |
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RGD |
PMID:19338000 |
RGD:38455985 |
NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
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G |
Tirap |
TIR domain containing adaptor protein |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Malaria, resistance to |
CTD OMIM ClinVar |
PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868 |
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NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432
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G |
Tnf |
tumor necrosis factor |
susceptibility |
ISO |
DNA:polymorphism:promoter:-376G>A ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:8056188 PMID:9818939 PMID:10369255 PMID:10450718 PMID:11261930 PMID:11506397 PMID:11826025 PMID:11896460 PMID:12485196 PMID:12746914 PMID:12759288 PMID:14681301 PMID:14718719 PMID:16418737 PMID:16720636 PMID:16865291 PMID:16909270 PMID:18050183 PMID:18713756 PMID:19365401 PMID:22760475 PMID:22992668 PMID:10369255 More...
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RGD:1624967 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Trem1 |
triggering receptor expressed on myeloid cells 1 |
severity |
ISO |
DNA:SNP: :rs2234237A>T (human) |
RGD |
PMID:27671831 |
RGD:126848795 |
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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G |
Tslp |
thymic stromal lymphopoietin |
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ISO |
mRNA:altered expression:multiple (mouse) |
RGD |
PMID:28955823 |
RGD:38596344 |
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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G |
Fcgr3a |
Fc gamma receptor 3A |
severity susceptibility |
ISO |
DNA:polymorphism: :p.F176V (human) |
RGD |
PMID:20231419 PMID:23045477 |
RGD:11040771, RGD:11344971 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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G |
Slc4a1 |
solute carrier family 4 member 1 (Diego blood group) |
severity |
ISO |
DNA:snp:promoter:g.-5699T>C (human) |
RGD |
PMID:16960783 |
RGD:10450507 |
NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
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G |
Tlr9 |
toll-like receptor 9 |
susceptibility |
ISO |
DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) |
RGD |
PMID:23045477 |
RGD:11344971 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
Tlr2 |
toll-like receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29253318 |
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NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Ifng |
interferon gamma |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7854095 |
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NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Lta |
lymphotoxin alpha |
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ISO |
DNA:polymorphism:intron |
RGD |
PMID:7595196 |
RGD:8548799 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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G |
Tnf |
tumor necrosis factor |
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ISO |
DNA:SNP:promoter:-308G>A (human) |
RGD |
PMID:7595196 |
RGD:8548799 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
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IEP |
protein:increased expression:liver (rat) |
RGD |
PMID:12621079 |
RGD:2306675 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Il1rl1 |
interleukin 1 receptor-like 1 |
severity |
ISO |
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RGD |
PMID:27697499 |
RGD:40400689 |
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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G |
Il33 |
interleukin 33 |
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ISO |
associated with Nippostrongylus brasiliensis infection; mRNA:increased expression:lung |
RGD |
PMID:22331917 |
RGD:40400742 |
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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G |
Il4 |
interleukin 4 |
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IEP |
mRNA:increased expression:spleen |
RGD |
PMID:17570971 |
RGD:2317296 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Muc13 |
mucin 13, cell surface associated |
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ISO |
protein:increased expression:cecum, glycocalyx |
RGD |
PMID:21155842 |
RGD:7364766 |
NCBI chr11:66,957,208...66,980,264
Ensembl chr11:66,960,595...66,984,727
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G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
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IEP ISO |
mRNA:increased expression:intestine |
RGD |
PMID:16689826 PMID:20138044 |
RGD:2303607, RGD:7349349 |
NCBI chr 1:196,796,257...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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G |
Muc3 |
mucin 3 |
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IEP |
mRNA:increased expression:intestine |
RGD |
PMID:16689826 |
RGD:2303607 |
NCBI chr12:19,527,251...19,536,924
Ensembl chr12:19,527,321...19,538,522
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G |
Muc4 |
mucin 4, cell surface associated |
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IEP ISO |
mRNA:increased expression:intestine protein:increased expression:cecum, glycocalyx |
RGD |
PMID:16689826 PMID:21155842 |
RGD:2303607, RGD:7364766 |
NCBI chr11:68,008,245...68,053,229
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G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
resistance |
ISO IEP |
mRNA:increased expression:cecum |
RGD |
PMID:20138044 PMID:22269441 |
RGD:7349349, RGD:7364747 |
NCBI chr 1:196,864,375...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
susceptibility |
ISO |
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RGD |
PMID:11850627 |
RGD:737789 |
NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
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IEP |
mRNA:increased expression:liver (rat) |
RGD |
PMID:20695884 |
RGD:5130965 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Il1r1 |
interleukin 1 receptor type 1 |
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ISO |
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RGD |
PMID:19168746 |
RGD:8662882 |
NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
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G |
Tlr4 |
toll-like receptor 4 |
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ISO |
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RGD |
PMID:11884755 |
RGD:7794682 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Anxa1 |
annexin A1 |
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ISO |
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RGD |
PMID:22740770 |
RGD:7421536 |
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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G |
Il10 |
interleukin 10 |
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ISO |
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RGD |
PMID:19026704 |
RGD:7365028 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il17a |
interleukin 17A |
treatment |
ISO |
protein:increased expression:aqueous humor (human) |
RGD |
PMID:22927448 PMID:22927448 |
RGD:8698652, RGD:8698652 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il27 |
interleukin 27 |
disease_progression |
ISO |
mRNA:increased expression:eye, cervical lymph node (mouse) |
RGD |
PMID:29779048 |
RGD:126790500 |
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
susceptibility |
ISO |
DNA:snp:3' utr:g.*397A>C (rs3135499)(human) |
RGD |
PMID:23100559 |
RGD:8547527 |
NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Il13 |
interleukin 13 |
severity |
ISO |
protein:increased expression:serum |
RGD |
PMID:22805723 |
RGD:8549600 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
DNA:polymorphisms: :HLA-DQA1*0401, HLA-DQA1*0102,HLA-DQA1*0103; |
RGD |
PMID:22117902 |
RGD:8547660 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
RT1-Ha |
RT1 class II, locus Ha |
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ISO |
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RGD |
PMID:8854084 |
RGD:6480649 |
NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
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G |
Actr3 |
actin related protein 3 |
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ISO |
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RGD |
PMID:25809205 |
RGD:11570559 |
NCBI chr13:36,800,739...36,843,837
Ensembl chr13:36,800,093...36,844,124
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G |
Mir192 |
microRNA 192 |
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ISO |
RNA:increased expression:urine |
RGD |
PMID:26456596 |
RGD:41404678 |
NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
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G |
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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G |
Il23a |
interleukin 23 subunit alpha |
severity |
ISO |
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RGD |
PMID:19204111 |
RGD:39457957 |
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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G |
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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G |
Ltf |
lactotransferrin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16640825 |
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NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
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G |
Zc3h12a |
zinc finger CCCH type containing 12A |
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ISO |
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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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G |
Il2rb |
interleukin 2 receptor subunit beta |
ameliorates |
ISO |
|
RGD |
PMID:21301182 |
RGD:42724469 |
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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G |
Il33 |
interleukin 33 |
treatment |
ISO |
|
RGD |
PMID:25912172 |
RGD:39939026 |
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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G |
Mir146a |
microRNA 146a |
exacerbates |
ISO |
|
RGD |
PMID:25024218 |
RGD:126925154 |
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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G |
Il5 |
interleukin 5 |
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ISO |
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RGD |
PMID:15534922 |
RGD:11354941 |
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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G |
Gnas |
GNAS complex locus |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
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NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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G |
Kmt2c |
lysine methyltransferase 2C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
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NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
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NCBI chr 4:178,185,418...178,218,484
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G |
Peg3 |
paternally expressed 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
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NCBI chr 1:67,097,874...67,124,692
Ensembl chr 1:67,097,904...67,124,671
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G |
Rnf43 |
ring finger protein 43 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
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NCBI chr10:72,461,508...72,535,977
Ensembl chr10:72,464,348...72,536,977
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G |
Robo2 |
roundabout guidance receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
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NCBI chr11:12,528,949...14,096,726
Ensembl chr11:12,528,951...13,041,536
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G |
Smad4 |
SMAD family member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
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NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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G |
Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
susceptibility |
ISO |
DNA:SNPs,haplotype:multiple |
RGD |
PMID:18003641 |
RGD:39938831 |
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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G |
Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
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ISO |
protein:decreased activity:plasma (human) |
RGD |
PMID:20062916 |
RGD:10449041 |
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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G |
Bsg |
basigin (Ok blood group) |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22080952 PMID:26195724 |
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NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387
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G |
Cast |
calpastatin |
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ISO |
protein:alter localization:erythrocyte |
RGD |
PMID:17359359 |
RGD:5509812 |
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
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G |
Ccl4 |
C-C motif chemokine ligand 4 |
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ISO |
mRNA, protein:increased expression:blood, |
RGD |
PMID:15972509 |
RGD:5683898 |
NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
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G |
Clec11a |
C-type lectin domain containing 11A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19884328 |
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NCBI chr 1:94,800,456...94,809,002
Ensembl chr 1:94,801,496...94,804,633
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G |
Cyp2c6v1 |
cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 |
treatment |
ISO |
DNA:polymorphisms:: |
RGD |
PMID:10471063 |
RGD:124713538 |
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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G |
Fas |
Fas cell surface death receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625619 |
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NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Fcgr2a |
Fc gamma receptor 2A |
severity |
ISO |
DNA:missense mutation:cds:p.R131H (rs1801274) (human) |
RGD |
PMID:18194515 |
RGD:5147927 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
severity |
ISO |
DNA:missense mutation:cds:202G>A (p.V68M) (human) |
RGD |
PMID:24943486 |
RGD:10449113 |
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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G |
Gstp1 |
glutathione S-transferase pi 1 |
severity |
ISO |
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RGD |
PMID:19635899 |
RGD:10450848 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Hbb |
hemoglobin subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20305663 |
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NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
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G |
Hp |
haptoglobin |
severity |
ISO |
DNA:missense mutation:cds:p.K54E (human) |
RGD |
PMID:24478401 |
RGD:11041793 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G |
Il13 |
interleukin 13 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:21985368 |
RGD:5684362 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
DNA:haplotype:exon: |
RGD |
PMID:18396436 |
RGD:11530064 |
NCBI chr 1:228,016,439...228,024,736
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G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:polymorphism:cds:HLA-DQB1*0501 (human) |
RGD |
PMID:11076705 |
RGD:11041780 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
Tnf |
tumor necrosis factor |
severity |
ISO |
protein:increased expression:plasma |
RGD |
PMID:1984482 |
RGD:10450571 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Ackr1 |
atypical chemokine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Resistance to Plasmodium vivax infection |
OMIM ClinVar |
PMID:7663520 PMID:8547665 PMID:8651934 PMID:10570183 PMID:10791881 PMID:17304246 PMID:18179887 PMID:18621010 PMID:19180233 PMID:19620399 PMID:20932074 More...
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NCBI chr13:85,782,396...85,786,002
Ensembl chr13:85,782,398...85,783,983
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G |
Azin1 |
antizyme inhibitor 1 |
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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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G |
C3 |
complement C3 |
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IEP |
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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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G |
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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G |
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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G |
Csf2 |
colony stimulating factor 2 |
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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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G |
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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G |
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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G |
Muc1 |
mucin 1, cell surface associated |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:9617869 |
RGD:5131424 |
NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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G |
Nos2 |
nitric oxide synthase 2 |
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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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G |
RT1-Bb |
RT1 class II, locus Bb |
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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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
Il10 |
interleukin 10 |
|
ISO |
|
RGD |
PMID:24717969 |
RGD:11041890 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Mir146a |
microRNA 146a |
susceptibility |
ISO |
miRNA:SNP: (rs2910164) (human) |
RGD |
PMID:30642347 |
RGD:126925184 |
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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G |
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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G |
Cat |
catalase |
treatment |
ISO |
|
RGD |
PMID:17884035 |
RGD:9479747 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Ager |
advanced glycosylation end product-specific receptor |
|
ISO |
protein:decreased expression:lung (mouse) |
RGD |
PMID:23369670 |
RGD:7243187 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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G |
Bud31 |
BUD31 homolog |
|
IEP |
Protein:increased expression:serum (human) |
RGD |
PMID:22686541 |
RGD:10058982 |
NCBI chr12:9,462,838...9,470,387
Ensembl chr12:9,462,441...9,470,509
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G |
Il33 |
interleukin 33 |
|
ISO |
mRNA,protein:increased expression:liver |
RGD |
PMID:29554131 |
RGD:39938854 |
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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G |
Mir146a |
microRNA 146a |
disease_progression |
ISO |
miRNA:altered expression: blood serum (mouse) |
RGD |
PMID:32443549 |
RGD:126925171 |
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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G |
Prdx1 |
peroxiredoxin 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19041905 |
|
NCBI chr 5:130,147,276...130,162,850
Ensembl chr 5:130,147,204...130,162,856
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G |
Rassf1 |
Ras association domain family member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23527093 |
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NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
treatment |
ISO |
DNA:polymorphism: :HLA-DRB1*13 |
RGD |
PMID:16709874 |
RGD:36049813 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Sting1 |
stimulator of interferon response cGAMP interactor 1 |
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ISO |
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RGD |
PMID:32404867 |
RGD:39128195 |
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23527093 |
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NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839
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G |
Cd1d1 |
CD1d1 molecule |
treatment |
ISO |
|
RGD |
PMID:33283278 |
RGD:127345110 |
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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G |
Il18 |
interleukin 18 |
treatment |
ISO |
|
RGD |
PMID:19467215 |
RGD:14696662 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il33 |
interleukin 33 |
treatment severity |
ISO |
protein:increased expression:serum |
RGD |
PMID:22590860 PMID:25944738 PMID:25944738 |
RGD:39939027, RGD:40400890, RGD:40400890 |
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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G |
Mir223 |
microRNA 223 |
treatment |
ISO |
RNA:increased expression:plasma: |
RGD |
PMID:24330517 PMID:24330517 |
RGD:21408589, RGD:21408589 |
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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G |
Pdcd1 |
programmed cell death 1 |
severity |
ISO |
protein:increased expression:CD4 T cell |
RGD |
PMID:27792733 PMID:27792733 PMID:27792733 |
RGD:40818413, RGD:40818413, RGD:40818413 |
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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G |
RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:16042197 |
RGD:14398841 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
Serpinh1 |
serpin family H member 1 |
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ISO |
mRNA,protein:increased expression:liver, serum (mouse) |
RGD |
PMID:31612672 |
RGD:41412161 |
NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801
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G |
Aldh1a2 |
aldehyde dehydrogenase 1 family, member A2 |
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ISO |
mRNA:increased expression:macrophage |
RGD |
PMID:22927819 |
RGD:14367882 |
NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107
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G |
Cd40 |
CD40 molecule |
treatment |
ISO |
|
RGD |
PMID:10623823 |
RGD:11520789 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd86 |
CD86 molecule |
|
ISO |
protein:increased expression:peripheral blood, eosinophil (human) |
RGD |
PMID:17308795 |
RGD:11354987 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Ihh |
Indian hedgehog signaling molecule |
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ISO |
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RGD |
PMID:23121638 |
RGD:12910981 |
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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G |
Il13 |
interleukin 13 |
treatment |
IMP |
|
RGD |
PMID:10903803 |
RGD:8549615 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Map3k8 |
mitogen-activated protein kinase kinase kinase 8 |
exacerbates |
ISO |
|
RGD |
PMID:27487182 |
RGD:151356963 |
NCBI chr17:53,382,908...53,403,216
Ensembl chr17:53,383,131...53,403,216
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9673227 |
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NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Sod1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16564582 |
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NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Tlr9 |
toll-like receptor 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19797157 |
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NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
Trem1 |
triggering receptor expressed on myeloid cells 1 |
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ISO |
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RGD |
PMID:21332515 |
RGD:126925988 |
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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G |
Tslp |
thymic stromal lymphopoietin |
treatment |
ISO |
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RGD |
PMID:22882457 |
RGD:38596354 |
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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G |
Nos2 |
nitric oxide synthase 2 |
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IEP |
protein:altered activity:brain, peritoneal macrophage |
RGD |
PMID:20169057 |
RGD:4891375 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Tslp |
thymic stromal lymphopoietin |
susceptibility |
ISO |
protein:increased expression:serum (mouse) |
RGD |
PMID:28769924 |
RGD:38549587 |
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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G |
Aicda |
activation-induced cytidine deaminase |
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ISO |
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RGD |
PMID:23630966 |
RGD:32716404 |
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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G |
Il3 |
interleukin 3 |
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ISO |
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RGD |
PMID:20500666 |
RGD:5686890 |
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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G |
Il33 |
interleukin 33 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:22331917 |
RGD:40400742 |
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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G |
Plau |
plasminogen activator, urokinase |
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IMP |
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RGD |
PMID:18022622 |
RGD:6484141 |
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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G |
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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G |
Il5 |
interleukin 5 |
severity |
ISO |
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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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G |
Il33 |
interleukin 33 |
|
ISO |
influenza and Pneumonia, Staphylococcal |
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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G |
Mpo |
myeloperoxidase |
severity |
ISO |
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RGD |
PMID:12085336 |
RGD:40903072 |
NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
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G |
Tnf |
tumor necrosis factor |
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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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G |
Il1a |
interleukin 1 alpha |
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ISO |
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RGD |
PMID:7835923 |
RGD:7794724 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Rapgef3 |
Rap guanine nucleotide exchange factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24218580 |
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NCBI chr 7:128,875,772...128,898,203
Ensembl chr 7:128,875,773...128,898,521
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G |
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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G |
Cd40lg |
CD40 ligand |
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ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:16463218 |
RGD:11352252 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Tslp |
thymic stromal lymphopoietin |
|
ISO |
mRNA:increased expression:multiple (mouse) |
RGD |
PMID:24327787 |
RGD:38596353 |
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
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ISO |
protein:increased expression:plasma, respiratory system fluid/secretion |
RGD |
PMID:16168564 |
RGD:7248410 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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G |
Il4 |
interleukin 4 |
treatment |
ISO |
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RGD |
PMID:26732352 |
RGD:11534298 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Olig2 |
oligodendrocyte transcription factor 2 |
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ISO |
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RGD |
PMID:25773181 |
RGD:40902825 |
NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152
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G |
Bax |
BCL2 associated X, apoptosis regulator |
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IEP |
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RGD |
PMID:24812878 |
RGD:10054127 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Il27 |
interleukin 27 |
susceptibility |
ISO |
|
RGD |
PMID:31548322 PMID:22981537 |
RGD:126790501, RGD:126790522 |
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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G |
Nfkbia |
NFKB inhibitor alpha |
exacerbates |
ISO |
human gene in a mouse model |
RGD |
PMID:12626571 |
RGD:126925984 |
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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G |
Ucp2 |
uncoupling protein 2 |
susceptibility |
ISO |
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RGD |
PMID:11101840 |
RGD:737759 |
NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
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G |
Il10 |
interleukin 10 |
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ISO |
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RGD |
PMID:23465441 |
RGD:11049476 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Lta |
lymphotoxin alpha |
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ISO |
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RGD |
PMID:19564380 |
RGD:8548805 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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G |
Slc17a8 |
solute carrier family 17 member 8 |
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IEP |
protein:increased expression:dorsal horn of spinal cord, dorsal root ganglion |
RGD |
PMID:22160634 |
RGD:9999169 |
NCBI chr 7:23,994,212...24,049,498
Ensembl chr 7:23,994,217...24,048,079
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G |
Slc6a4 |
solute carrier family 6 member 4 |
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ISO |
protein:decreased expression:jejunum (mouse) |
RGD |
PMID:16336502 |
RGD:38676482 |
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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G |
Tnf |
tumor necrosis factor |
|
ISO |
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RGD |
PMID:19564380 |
RGD:8548805 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tslp |
thymic stromal lymphopoietin |
disease_progression |
ISO |
|
RGD |
PMID:23024277 |
RGD:38596337 |
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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G |
Foxp1 |
forkhead box P1 |
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IEP |
mRNA:increased expression:duodenum (rat) |
RGD |
PMID:21698235 |
RGD:11561920 |
NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20864659 |
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NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Mpo |
myeloperoxidase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20864659 |
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NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
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G |
Tslp |
thymic stromal lymphopoietin |
susceptibility |
ISO |
|
RGD |
PMID:19273626 |
RGD:38549593 |
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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G |
A2m |
alpha-2-macroglobulin |
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IEP |
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RGD |
PMID:17722867 |
RGD:10046041 |
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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G |
Ada |
adenosine deaminase |
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IEP |
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RGD |
PMID:20809996 |
RGD:5128861 |
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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G |
Bche |
butyrylcholinesterase |
|
IEP |
protein:decreased expression:plasma |
RGD |
PMID:20138875 |
RGD:5687328 |
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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G |
Cd1d1 |
CD1d1 molecule |
exacerbates |
ISO |
|
RGD |
PMID:15731095 |
RGD:127345115 |
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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G |
Hp |
haptoglobin |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:19567273 |
RGD:11041867 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G |
Il4 |
interleukin 4 |
treatment |
IEP |
|
RGD |
PMID:24731531 |
RGD:10402804 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Prf1 |
perforin 1 |
|
ISO |
|
RGD |
PMID:19651871 |
RGD:6482814 |
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
mRNA:increased expression:liver (mouse) |
RGD |
PMID:18565585 |
RGD:18337478 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
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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G |
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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G |
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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G |
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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G |
Aicda |
activation-induced cytidine deaminase |
|
ISO |
mRNA:altered expression:Bcell,CD4Tcell |
RGD |
PMID:31001826 |
RGD:32716386 |
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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G |
Ccl4 |
C-C motif chemokine ligand 4 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21991751 |
RGD:5683905 |
NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
associated with Malnutrition;mRNA:increased expression:lymph node,spleen: |
RGD |
PMID:24818662 |
RGD:8661728 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO |
protein:increased expression:blood, T cell |
RGD |
PMID:15379987 |
RGD:6893393 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
treatment |
ISO |
|
RGD |
PMID:24617012 |
RGD:14401738 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Cd163 |
CD163 molecule |
exacerbates |
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:28355218 |
RGD:127345133 |
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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G |
Cd40 |
CD40 molecule |
treatment |
ISO |
|
RGD |
PMID:14573667 |
RGD:8547750 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
|
ISO |
|
RGD |
PMID:14573667 |
RGD:8547750 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Crp |
C-reactive protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10467834 |
|
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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G |
Csf2 |
colony stimulating factor 2 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17404324 PMID:8035028 |
RGD:10449527 |
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
mRNA:increased expression:liver |
RGD |
PMID:16239557 |
RGD:27095947 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Hmox1 |
heme oxygenase 1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22461696 PMID:23729024 |
RGD:42724459 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Ifng |
interferon gamma |
treatment |
ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:1901333 PMID:7854095 PMID:3104456 PMID:27999013 |
RGD:8158041, RGD:40890273 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Il10 |
interleukin 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15716043 PMID:17404324 PMID:22461696 PMID:29745990 |
RGD:14975172 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il10ra |
interleukin 10 receptor subunit alpha |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15716043 |
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NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
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G |
Il18 |
interleukin 18 |
susceptibility |
ISO |
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RGD |
PMID:16879623 |
RGD:8655922 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17404324 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il27 |
interleukin 27 |
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ISO |
mRNA, protein:increased expression:spleen, liver (mouse) |
RGD |
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