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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ISO |
mRNA,protein:increased expression:cornea |
RGD |
PMID:21155840 |
RGD:7777095 |
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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KDSR |
3-ketodihydrosphingosine reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10861090 |
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NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
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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 5:63,892,129...63,918,547
Ensembl chr 5:63,892,137...63,918,519
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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 6:72,103,309...72,174,882
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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 chr 6:19,345,929...19,372,972
Ensembl chr 6:19,345,941...19,348,926
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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 chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960
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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 chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
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CFTR |
CF transmembrane conductance regulator |
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ISO |
DNA:mutations: : |
RGD |
PMID:11243954 |
RGD:4140482 |
NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
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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 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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IL1A |
interleukin 1 alpha |
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ISO |
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RGD |
PMID:8699818 |
RGD:7794730 |
NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
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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 chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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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:5130858 RGD:5130863 |
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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TNF |
tumor necrosis factor |
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ISO |
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RGD |
PMID:8699818 |
RGD:7794730 |
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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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 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
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CD274 |
CD274 molecule |
treatment |
ISO |
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RGD |
PMID:30315719 |
RGD:41410787 |
NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
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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 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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IL2 |
interleukin 2 |
treatment |
ISO |
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RGD |
PMID:10862314 |
RGD:14928216 |
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
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IL23A |
interleukin 23 subunit alpha |
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ISO |
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RGD |
PMID:26809113 |
RGD:39458041 |
NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
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TNF |
tumor necrosis factor |
treatment |
ISO |
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RGD |
PMID:10862314 |
RGD:14928216 |
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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IL25 |
interleukin 25 |
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ISO |
protein:decreased expression:intestine |
RGD |
PMID:28246365 |
RGD:39128243 |
NCBI chr 7:75,710,453...75,717,688
Ensembl chr 7:75,709,995...75,714,355
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IL1RL1 |
interleukin 1 receptor like 1 |
treatment |
ISO |
mRNA:increased expression:brain: |
RGD |
PMID:23148283 PMID:24657070 |
RGD:11561855 RGD:40400713 |
NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
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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 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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IL5 |
interleukin 5 |
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ISO |
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RGD |
PMID:8361777 |
RGD:11354948 |
NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
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MAG |
myelin associated glycoprotein |
disease_progression |
ISO |
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RGD |
PMID:20399564 |
RGD:27226693 |
NCBI chr 6:44,794,197...44,809,933
Ensembl chr 6:44,794,204...44,809,926
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MBP |
myelin basic protein |
disease_progression |
ISO |
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RGD |
PMID:20399564 |
RGD:27226693 |
NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,590,865...147,685,290
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MOBP |
myelin associated oligodendrocyte basic protein |
disease_progression |
ISO |
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RGD |
PMID:20399564 |
RGD:27226693 |
NCBI chr13:24,138,078...24,186,838
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CD40 |
CD40 molecule |
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ISO |
protein:increased expression:plasmacytoid dendritic cell |
RGD |
PMID:20702728 |
RGD:5490530 |
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CCL5 |
C-C motif chemokine ligand 5 |
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ISO |
mRNA, protein:increased expression:blood vessel endothelial cell |
RGD |
PMID:15710456 |
RGD:2307183 |
NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
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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 chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
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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:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
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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 chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,526
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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 chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
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IL17A |
interleukin 17A |
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ISO |
mRNA,protein:increased expression:placenta: |
RGD |
PMID:21923716 |
RGD:38501105 |
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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IL21 |
interleukin 21 |
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ISO |
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RGD |
PMID:23667536 |
RGD:127285360 |
NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
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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 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
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IL2RB |
interleukin 2 receptor subunit beta |
ameliorates |
ISO |
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RGD |
PMID:11286020 |
RGD:42724468 |
NCBI chr 5:10,610,094...10,650,315
Ensembl chr 5:10,628,962...10,650,314
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IL6 |
interleukin 6 |
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ISO |
mRNA:increased expression:placenta: |
RGD |
PMID:21923716 |
RGD:38501105 |
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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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 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,827
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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 chr15:63,487,051...63,506,249
Ensembl chr15:63,487,731...63,495,299
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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 4:97,374,672...97,399,017
Ensembl chr 4:97,375,136...97,400,209
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STING1 |
stimulator of interferon response cGAMP interactor 1 |
severity |
ISO |
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RGD |
PMID:31416833 |
RGD:39128220 |
NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
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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 chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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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 chr10:32,110,366...32,112,529
Ensembl chr10:32,110,065...32,112,734
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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 chr12:21,857,286...21,869,211
Ensembl chr12:21,857,286...21,872,475
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CD209 |
CD209 molecule |
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ISO |
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RGD |
PMID:21381282 |
RGD:5131183 |
NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
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CFTR |
CF transmembrane conductance regulator |
severity |
ISO |
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RGD |
PMID:22135344 |
RGD:35673332 |
NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
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CLEC1A |
C-type lectin domain family 1 member A |
susceptibility |
ISO |
ClinVar Annotator: match by term: Aspergillosis, susceptibility to |
OMIM ClinVar |
PMID:29489751 |
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NCBI chr 5:61,849,042...61,870,288
Ensembl chr 5:61,849,253...61,868,049
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CLEC7A |
C-type lectin domain containing 7A |
susceptibility |
ISO |
ClinVar Annotator: match by term: Aspergillosis, susceptibility to |
OMIM ClinVar |
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 |
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NCBI chr 5:61,832,910...61,846,441
Ensembl chr 5:61,832,954...61,846,434
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CRP |
C-reactive protein, pentraxin-related |
treatment |
ISO |
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RGD |
PMID:20879853 |
RGD:9495929 |
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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IL15 |
interleukin 15 |
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ISO |
DNA:polymorphism (human) |
RGD |
PMID:16893395 |
RGD:4981337 |
NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
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MBL2 |
mannose binding lectin 2 |
susceptibility |
ISO |
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RGD |
PMID:20064561 |
RGD:8694071 |
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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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 |
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TLR1 |
toll like receptor 1 |
susceptibility |
ISO |
DNA:SNPs: :p.R80T, p.N248S (human) |
RGD |
PMID:16461792 |
RGD:4889535 |
NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466
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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 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TLR6 |
toll like receptor 6 |
susceptibility |
ISO |
DNA:SNP: :p.S249P (human) |
RGD |
PMID:16461792 |
RGD:4889535 |
NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650
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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 chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293
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C3 |
complement C3 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:3361150 |
RGD:11041575 |
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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CFB |
complement factor B |
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ISO |
protein:increased expression:serum |
RGD |
PMID:3361150 |
RGD:11041575 |
NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179
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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 chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
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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 chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271
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EPHB2 |
EPH receptor B2 |
exacerbates |
ISO |
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RGD |
PMID:33685996 |
RGD:127229905 |
NCBI chr 6:80,649,098...80,849,979
Ensembl chr 6:80,650,740...80,843,567
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PCD1B |
CD1B antigen |
ameliorates |
ISO |
associated with endotoxemia |
RGD |
PMID:32154791 |
RGD:127345119 |
NCBI chr 4:92,035,122...92,040,724
Ensembl chr 4:92,031,712...92,040,742
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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 chr13:207,148,401...207,158,355
Ensembl chr13:207,148,401...207,158,532
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CHRM2 |
cholinergic receptor muscarinic 2 |
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ISO |
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RGD |
PMID:19958780 |
RGD:5509581 |
NCBI chr18:12,455,139...12,600,314
Ensembl chr18:12,455,145...12,600,186
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IL33 |
interleukin 33 |
treatment |
ISO |
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RGD |
PMID:22661085 |
RGD:40400896 |
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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LTF |
lactotransferrin |
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ISO |
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RGD |
PMID:17922408 |
RGD:7243948 |
NCBI chr13:29,413,886...29,445,751
Ensembl chr13:29,413,886...29,445,739
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MAPK8 |
mitogen-activated protein kinase 8 |
ameliorates |
ISO |
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RGD |
PMID:28112734 |
RGD:150340684 |
NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,108,874
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NCR1 |
natural cytotoxicity triggering receptor 1 |
disease_progression |
ISO |
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RGD |
PMID:27736647 |
RGD:40818241 |
NCBI chr 6:59,092,258...59,099,992
Ensembl chr 6:59,092,911...59,099,990
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RIPK3 |
receptor interacting serine/threonine kinase 3 |
exacerbates |
ISO |
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RGD |
PMID:30944411 |
RGD:127229913 |
NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
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CLEC7A |
C-type lectin domain containing 7A |
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ISO |
ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis |
OMIM ClinVar |
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 5:61,832,910...61,846,441
Ensembl chr 5:61,832,954...61,846,434
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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 7:46,058,371...46,066,039
Ensembl chr 7:46,059,002...46,077,048
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TRAF3IP2 |
TRAF3 interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 8 |
OMIM ClinVar |
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 chr 1:77,483,997...77,541,557
Ensembl chr 1:77,487,577...77,541,198
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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 chr13:66,315,438...66,324,641
Ensembl chr13:66,315,315...66,324,641
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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 chr13:66,141,836...66,149,801
Ensembl chr13:66,141,839...66,149,703
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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 chr13:66,194,795...66,203,419
Ensembl chr13:66,194,865...66,203,412
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G |
EMC3 |
ER membrane protein complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
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NCBI chr13:66,221,844...66,241,963
Ensembl chr13:66,217,970...66,241,935
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G |
FANCD2 |
FA complementation group D2 |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
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NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433
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G |
FANCD2OS |
FANCD2 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
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NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,309,630...66,310,166
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G |
IL17RC |
interleukin 17 receptor C |
|
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 chr13:66,179,298...66,194,750
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G |
IL17RE |
interleukin 17 receptor E |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
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NCBI chr13:66,164,492...66,177,967
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G |
JAGN1 |
jagunal homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
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NCBI chr13:66,154,855...66,158,329
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G |
PRRT3 |
proline rich transmembrane protein 3 |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:66,200,400...66,211,595
Ensembl chr13:66,200,797...66,211,449
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G |
VHL |
von Hippel-Lindau tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
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G |
ACE2 |
angiotensin converting enzyme 2 |
susceptibility |
ISO |
DNA:SNP:intron 1: C>T |
RGD |
PMID:20117248 |
RGD:40818420 |
NCBI chr X:12,099,849...12,152,204
Ensembl chr X:12,093,242...12,151,286
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G |
AQP4 |
aquaporin 4 |
disease_progression |
ISO |
protein:increased expression:astrocyte: |
RGD |
PMID:21904632 |
RGD:8698661 |
NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
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G |
CAST |
calpastatin |
|
ISO |
protein:increased express:brain |
RGD |
PMID:16236382 |
RGD:5509817 |
NCBI chr 2:103,255,738...103,378,623
Ensembl chr 2:103,255,750...103,378,623
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G |
CD36 |
CD36 molecule |
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ISO |
|
RGD |
PMID:17367535 |
RGD:6893527 |
NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
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G |
CLEC12A |
C-type lectin domain family 12 member A |
ameliorates |
ISO |
|
RGD |
PMID:31269448 |
RGD:41412201 |
NCBI chr 5:61,923,057...61,936,843
Ensembl chr 5:61,922,895...61,937,096
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G |
IL1RL1 |
interleukin 1 receptor like 1 |
treatment |
ISO |
|
RGD |
PMID:25682948 |
RGD:40400741 |
NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
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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 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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G |
JAK3 |
Janus kinase 3 |
|
ISO |
|
RGD |
PMID:22363534 |
RGD:11531103 |
NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495
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G |
LTA |
lymphotoxin alpha |
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ISO |
|
RGD |
PMID:12021316 |
RGD:10449455 |
NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
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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:24433482 PMID:29636063 |
RGD:39456084 RGD:39456102 |
NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,630,679...52,839,505
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G |
PIK3CG |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
|
ISO |
|
RGD |
PMID:25775137 |
RGD:38599200 |
NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
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G |
PRKAA2 |
protein kinase AMP-activated catalytic subunit alpha 2 |
|
ISO |
mRNA:decreased expression:brain (mouse) |
RGD |
PMID:29107705 |
RGD:39456137 |
NCBI chr 6:155,683,392...155,754,283
Ensembl chr 6:155,681,784...155,754,278
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G |
TNFRSF1B |
TNF receptor superfamily member 1B |
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ISO |
|
RGD |
PMID:12228317 |
RGD:5131158 |
NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
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G |
NFKB1 |
nuclear factor kappa B subunit 1 |
severity |
ISO |
|
RGD |
PMID:20156658 |
RGD:40902838 |
NCBI chr 8:118,391,010...118,478,927
Ensembl chr 8:118,390,638...118,506,691
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G |
MUC2 |
mucin 2, oligomeric mucus/gel-forming |
|
ISO |
|
RGD |
PMID:17187651 |
RGD:7349350 |
NCBI chr 2:689,363...719,542
Ensembl chr 2:689,364...710,330
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G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
disease_progression |
ISO |
DNA:SNP:promoter:g.-251A>T (rs4073) (human) |
RGD |
PMID:22537745 |
RGD:39939013 |
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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G |
IL10 |
interleukin 10 |
treatment |
ISO |
|
RGD |
PMID:24055715 |
RGD:7364866 |
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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G |
IL23A |
interleukin 23 subunit alpha |
|
ISO |
|
RGD |
PMID:28356392 |
RGD:39457935 |
NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
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G |
MBL2 |
mannose binding lectin 2 |
severity |
ISO |
|
RGD |
PMID:26745156 |
RGD:11076757 |
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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G |
PCNA |
proliferating cell nuclear antigen |
|
ISO |
protein:increased expression:myocardium: |
RGD |
PMID:12435130 |
RGD:10448990 |
NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,136,886...14,142,744
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G |
PIK3CG |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
disease_progression |
ISO |
mRNA:increased expression:heart (human) mRNA:increased expression:heart (mouse) |
RGD |
PMID:29666415 |
RGD:38599151 |
NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
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G |
CCL2 |
chemokine (C-C motif) ligand 2 |
|
ISO |
|
RGD |
PMID:16844401 |
RGD:2307145 |
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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G |
CCL3L1 |
chemokine (C-C motif) ligand 3-like 1 |
|
ISO |
|
RGD |
PMID:16844401 |
RGD:2307145 |
NCBI chr12:39,491,999...39,493,345
Ensembl chr12:39,491,914...39,493,774
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G |
CCL5 |
C-C motif chemokine ligand 5 |
|
ISO |
|
RGD |
PMID:20452453 |
RGD:4889906 |
NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
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G |
CHRM2 |
cholinergic receptor muscarinic 2 |
|
ISO |
|
RGD |
PMID:9148906 |
RGD:5509585 |
NCBI chr18:12,455,139...12,600,314
Ensembl chr18:12,455,145...12,600,186
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G |
F2 |
coagulation factor II, thrombin |
|
ISO |
protein:increased expression:blood plasma (human) |
RGD |
PMID:20699256 PMID:21866301 |
RGD:40818435 RGD:5147778 |
NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
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G |
HSPA4 |
heat shock protein family A (Hsp70) member 4 |
|
ISO |
|
RGD |
PMID:21801456 |
RGD:6218957 |
NCBI chr 2:135,345,724...135,391,112
Ensembl chr 2:135,345,867...135,391,108
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G |
IFNG |
interferon gamma |
|
ISO |
|
RGD |
PMID:10684988 |
RGD:10755744 |
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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G |
IL23A |
interleukin 23 subunit alpha |
susceptibility |
ISO |
|
RGD |
PMID:23182712 |
RGD:39457956 |
NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
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G |
LOC100625180 |
proteoglycan 3 |
|
ISO |
mRNA:increased expression:plancenta (human) |
RGD |
PMID:29545200 |
RGD:40902989 |
NCBI chr 2:13,525,472...13,529,620
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G |
SOAT1 |
sterol O-acyltransferase 1 |
ameliorates |
ISO |
DNA:SNP:exon: rs1044925 (human) |
RGD |
PMID:31236660 |
RGD:126925205 |
NCBI chr 9:121,045,211...121,112,393
Ensembl chr 9:121,045,234...121,113,692
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G |
VIM |
vimentin |
severity |
ISO |
protein:increased expression:plasma |
RGD |
PMID:22199233 |
RGD:6480538 |
NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,170
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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 5:69,461,280...69,480,343
Ensembl chr 5:69,461,290...69,480,112
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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 chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,108,874
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G |
STAT1 |
signal transducer and activator of transcription 1 |
|
ISO |
ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis |
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 chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
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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 |
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NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
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G |
FAS |
Fas cell surface death receptor |
|
ISO |
mRNA, protein:increased expression:liver |
RGD |
PMID:18427836 |
RGD:2315733 |
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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G |
FASLG |
Fas ligand |
|
ISO |
mRNA, protein:increased expression:liver |
RGD |
PMID:18427836 |
RGD:2315733 |
NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
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G |
IL33 |
interleukin 33 |
|
ISO |
mRNA,protein:increased expression:liver, serum: protein:increased expression:serum: |
RGD |
PMID:26944417 |
RGD:39939001 |
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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G |
TLR2 |
toll like receptor 2 |
|
ISO |
|
RGD |
PMID:28784165 |
RGD:15090810 |
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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|
G |
IL2RB |
interleukin 2 receptor subunit beta |
exacerbates |
ISO |
|
RGD |
PMID:20460838 |
RGD:42724464 |
NCBI chr 5:10,610,094...10,650,315
Ensembl chr 5:10,628,962...10,650,314
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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 1:201,515,835...201,516,477
Ensembl chr 1:201,515,809...201,516,488
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G |
CD274 |
CD274 molecule |
treatment |
ISO |
|
RGD |
PMID:29058791 |
RGD:41412178 |
NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
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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 chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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G |
PDCD1 |
programmed cell death 1 |
treatment |
ISO |
|
RGD |
PMID:29058791 |
RGD:41412178 |
NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
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G |
BTK |
Bruton tyrosine kinase |
exacerbates |
ISO |
|
RGD |
PMID:23820392 |
RGD:124715476 |
NCBI chr X:82,981,512...83,014,475
Ensembl chr X:82,981,515...83,014,573
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G |
CCL2 |
chemokine (C-C motif) ligand 2 |
|
ISO |
mRNA, protein:increased expression:lung (mouse) |
RGD |
PMID:11714821 |
RGD:11528563 |
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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G |
CD40 |
CD40 molecule |
treatment |
ISO |
|
RGD |
PMID:16552046 |
RGD:7248435 |
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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G |
CD86 |
CD86 molecule |
|
ISO |
protein:increased expression:lung, dendritic cell (mouse) |
RGD |
PMID:16790753 |
RGD:4892554 |
NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
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G |
CHIA |
chitinase acidic |
|
ISO |
protein:increased expression:lung (rat) |
RGD |
PMID:18482441 |
RGD:4990459 |
NCBI chr 4:109,035,323...109,046,499
Ensembl chr 4:109,035,326...109,046,499
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G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
|
ISO |
mRNA:increased expression:lung (mouse) |
RGD |
PMID:27596810 |
RGD:38549345 |
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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G |
IL23A |
interleukin 23 subunit alpha |
severity |
ISO |
|
RGD |
PMID:16393998 PMID:22342846 |
RGD:39457936 RGD:39458042 |
NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
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G |
IL33 |
interleukin 33 |
|
ISO |
mRNA:increased expression:lung (mouse) |
RGD |
PMID:27596810 |
RGD:38549345 |
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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G |
IL4R |
interleukin 4 receptor |
|
ISO |
|
RGD |
PMID:18954266 |
RGD:4890005 |
NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
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|
G |
MARCO |
macrophage receptor with collagenous structure |
disease_progression |
ISO |
|
RGD |
PMID:28298522 |
RGD:41412191 |
NCBI chr15:24,502,935...24,541,286
Ensembl chr15:24,503,108...24,541,283
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|
G |
SFTPC |
surfactant protein C |
|
ISO |
mRNA:increased expression:lung (mouse) |
RGD |
PMID:27596810 |
RGD:38549345 |
NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095
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G |
MBL2 |
mannose binding lectin 2 |
susceptibility |
ISO |
DNA:polymorphisms, haplotype:promoter,exon: |
RGD |
PMID:19827946 |
RGD:12910843 |
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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|
G |
MIR21 |
microRNA mir-21 |
|
ISO |
RNA:increased expression:ileum |
RGD |
PMID:25838265 |
RGD:40925950 |
NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
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G |
CAT |
catalase |
|
ISO |
protein:decreased activity:erythrocyte: |
RGD |
PMID:9892499 |
RGD:9479188 |
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
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G |
CCL2 |
chemokine (C-C motif) ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20102417 |
|
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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G |
CCR1 |
C-C motif chemokine receptor 1 |
|
ISO |
|
RGD |
PMID:12874303 |
RGD:5688168 |
NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960
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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 chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
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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:17214851 PMID:23632983 |
RGD:8549764 RGD:8549765 |
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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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 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
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G |
CD274 |
CD274 molecule |
|
ISO |
|
RGD |
PMID:16358363 |
RGD:41410801 |
NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
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G |
COL1A1 |
collagen type I alpha 1 chain |
|
ISO |
DNA:SNPs: :rs1061237, rs2586488 (human) |
RGD |
PMID:25562121 |
RGD:11041176 |
NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
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G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20102417 |
|
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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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:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
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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 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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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 chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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G |
IL13 |
interleukin 13 |
treatment |
ISO |
|
RGD |
PMID:12739821 PMID:18924210 |
RGD:8549536 RGD:8549561 |
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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G |
IL17A |
interleukin 17A |
|
ISO |
mRNA:increased expression:Peripheral blood mononuclear cell: |
RGD |
PMID:29205403 |
RGD:38455981 |
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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G |
IL23A |
interleukin 23 subunit alpha |
|
ISO |
|
RGD |
PMID:29078003 |
RGD:39457938 |
NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
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G |
IL4 |
interleukin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20102417 |
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NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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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 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192
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G |
LOC110258578 |
interleukin-1 beta-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20102417 |
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G |
LTA |
lymphotoxin alpha |
no_association |
ISO |
DNA:SNP:intron:252A>G (human) |
RGD |
PMID:16950634 |
RGD:8548800 |
NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
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G |
LTB |
lymphotoxin beta |
|
ISO |
|
RGD |
PMID:17911622 |
RGD:8548820 |
NCBI chr 7:23,704,842...23,707,036
Ensembl chr 7:23,704,841...23,706,745
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G |
MMP2 |
matrix metallopeptidase 2 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:21091666 |
RGD:8657030 |
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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G |
PDCD1LG2 |
programmed cell death 1 ligand 2 |
|
ISO |
|
RGD |
PMID:16358363 |
RGD:41410801 |
NCBI chr 1:216,564,428...216,600,333
Ensembl chr 1:216,553,105...216,657,170
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G |
PIK3CD |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
treatment |
ISO |
|
RGD |
PMID:27999013 |
RGD:40890273 |
NCBI chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,084,742
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G |
SLC11A1 |
solute carrier family 11 member 1 |
|
ISO |
DNA:insertion/deletion (human) |
RGD |
PMID:20089160 |
RGD:5684930 |
NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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G |
SOD1 |
superoxide dismutase 1 |
|
ISO |
protein:increased activity:erythrocyte: |
RGD |
PMID:9892499 |
RGD:9479188 |
NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
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G |
STAT4 |
signal transducer and activator of transcription 4 |
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ISO |
|
RGD |
PMID:10458767 |
RGD:8661703 |
NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
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G |
TLR2 |
toll like receptor 2 |
|
ISO |
protein:decreased expression:skin: |
RGD |
PMID:20493664 |
RGD:7794748 |
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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G |
TLR4 |
toll like receptor 4 |
|
ISO |
protein:decreased expression:skin: |
RGD |
PMID:20493664 |
RGD:7794748 |
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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G |
TLR9 |
toll like receptor 9 |
|
ISO |
protein:decreased expression:skin: |
RGD |
PMID:20493664 |
RGD:7794748 |
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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G |
TNF |
tumor necrosis factor |
no_association |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP:promoter:-308G>A (rs1800629) (human) |
CTD RGD |
PMID:16950634 PMID:20102417 |
RGD:8548800 |
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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G |
IL4 |
interleukin 4 |
treatment |
ISO |
|
RGD |
PMID:25726962 |
RGD:14696685 |
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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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:21923667 PMID:31437685 |
RGD:15090825 RGD:18182935 |
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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G |
TLR4 |
toll like receptor 4 |
|
ISO |
mRNA:increased expression:peripheral blood monocyte: |
RGD |
PMID:21923667 |
RGD:18182935 |
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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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 1:272,912,239...272,935,316
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G |
ALB |
albumin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24270252 |
|
NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696
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G |
IL5 |
interleukin 5 |
|
ISO |
mRNA: increased expression: : peritoneal lavage cells |
RGD |
PMID:21912714 |
RGD:5687176 |
NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
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G |
TF |
transferrin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24270252 |
|
NCBI chr13:74,930,655...74,970,599
Ensembl chr13:74,930,655...74,972,763
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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 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
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G |
IFNG |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16374615 PMID:29255076 |
RGD:14975099 |
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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G |
IL10 |
interleukin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16374615 |
|
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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G |
IL2 |
interleukin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16374615 |
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NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
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G |
IL5 |
interleukin 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16374615 |
|
NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
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G |
IL6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16374615 |
|
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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G |
LOC110258578 |
interleukin-1 beta-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16374615 |
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G |
NFKB1 |
nuclear factor kappa B subunit 1 |
severity |
ISO |
|
RGD |
PMID:20086086 |
RGD:40902842 |
NCBI chr 8:118,391,010...118,478,927
Ensembl chr 8:118,390,638...118,506,691
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G |
TLR4 |
toll like receptor 4 |
|
ISO |
|
RGD |
PMID:15910421 |
RGD:7241086 |
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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G |
CTSB |
cathepsin B |
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ISO |
protein:decreased activity:liver (rat) |
RGD |
PMID:19696938 |
RGD:2315504 |
NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,033,877
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G |
GLUD1 |
glutamate dehydrogenase 1 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:10431747 |
RGD:6484593 |
NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,520
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G |
IL1RL1 |
interleukin 1 receptor like 1 |
|
ISO |
|
RGD |
PMID:27592711 |
RGD:40400889 |
NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
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G |
LOC100625180 |
proteoglycan 3 |
|
ISO |
|
RGD |
PMID:24626328 |
RGD:40903014 |
NCBI chr 2:13,525,472...13,529,620
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G |
CD274 |
CD274 molecule |
|
ISO |
mRNA, protein:increased expression:liver |
RGD |
PMID:25907244 |
RGD:41412175 |
NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
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G |
IGF2 |
insulin like growth factor 2 |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:12927688 |
RGD:5509967 |
NCBI chr 2:1,469,183...1,496,417
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G |
PDCD1 |
programmed cell death 1 |
|
ISO |
mRNA, protein:increased expression:liver |
RGD |
PMID:25907244 |
RGD:41412175 |
NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
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G |
KRT18 |
keratin 18 |
disease_progression |
ISO |
protein:increased expression:serum (mouse, human) |
RGD |
PMID:21357724 |
RGD:21406434 |
NCBI chr 5:18,217,686...18,221,432
Ensembl chr 5:18,217,691...18,221,429
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G |
SERPINF1 |
serpin family F member 1 |
|
ISO |
|
RGD |
PMID:9038736 |
RGD:30296660 |
NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470
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G |
IL1RL1 |
interleukin 1 receptor like 1 |
|
ISO |
|
RGD |
PMID:22329990 |
RGD:39938827 |
NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
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G |
IL33 |
interleukin 33 |
|
ISO |
mRNA,protein:increased expression:Bronchoalveolar lavage, epithelium, macrophage |
RGD |
PMID:22329990 |
RGD:39938827 |
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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G |
TFF2 |
trefoil factor 2 |
|
ISO |
|
RGD |
PMID:22329990 |
RGD:39938827 |
NCBI chr13:205,669,014...205,672,319
Ensembl chr13:205,669,014...205,672,324
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G |
ABCA2 |
ATP binding cassette subfamily A member 2 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
AGPAT2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
C8G |
complement C8 gamma chain |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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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 |
OMIM ClinVar |
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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G |
CCDC183 |
coiled-coil domain containing 183 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
CLIC3 |
chloride intracellular channel 3 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
DIPK1B |
divergent protein kinase domain 1B |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
EDF1 |
endothelial differentiation related factor 1 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
EGFL7 |
EGF like domain multiple 7 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
ENTPD2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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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:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
FBXW5 |
F-box and WD repeat domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
FUT7 |
fucosyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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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:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
LCN10 |
lipocalin 10 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
LCN12 |
lipocalin 12 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
LCN15 |
lipocalin 15 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
LCN6 |
lipocalin 6 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
LOC110258087 |
endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase-like |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
MAMDC4 |
MAM domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
MIR126 |
microRNA mir-126 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
NOTCH1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
NPDC1 |
neural proliferation, differentiation and control 1 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
PAXX |
PAXX non-homologous end joining factor |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
PHPT1 |
phosphohistidine phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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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:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
PTGDS |
prostaglandin D2 synthase |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
RABL6 |
RAB, member RAS oncogene family like 6 |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
SAPCD2 |
suppressor APC domain containing 2 |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
SEC16A |
SEC16 homolog A, endoplasmic reticulum export factor |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
SNAPC4 |
small nuclear RNA activating complex polypeptide 4 |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
TMEM141 |
transmembrane protein 141 |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
TRAF2 |
TNF receptor associated factor 2 |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
UAP1L1 |
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
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G |
IL21R |
interleukin 21 receptor |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 31C |
ClinVar |
PMID:25741868 |
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NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,359...19,489,152
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G |
STAT1 |
signal transducer and activator of transcription 1 |
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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 chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
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G |
ADA2 |
adenosine deaminase 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 chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661
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G |
ARVCF |
ARVCF delta catenin family member |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 51 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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NCBI chr14:51,403,215...51,440,036
Ensembl chr14:51,403,923...51,440,058
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G |
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 5:69,752,644...69,772,038
Ensembl chr 5:69,747,700...69,771,990
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G |
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 5:69,779,290...69,846,638
Ensembl chr 5:69,778,950...69,855,272
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G |
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 5:69,849,007...69,874,647
Ensembl chr 5:69,849,002...69,875,853
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G |
C14H22orf39 |
chromosome 14 C22orf39 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 chr14:51,106,984...51,112,385
Ensembl chr14:51,106,991...51,112,359
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G |
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 chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606
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G |
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 5:69,621,871...69,747,730
Ensembl chr 5:69,621,959...69,740,958
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G |
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 chr14:51,161,490...51,162,382
Ensembl chr14:51,161,042...51,163,482
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G |
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 chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
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G |
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 chr14:50,881,260...50,935,603
Ensembl chr14:50,877,872...50,935,564
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G |
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 chr14:50,945,121...50,956,018
Ensembl chr14:50,945,122...50,955,983
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G |
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 chr14:51,306,561...51,343,040
Ensembl chr14:51,305,039...51,343,029
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G |
GP1BB |
glycoprotein Ib platelet subunit beta |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
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G |
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 chr14:50,956,315...50,960,424
Ensembl chr14:50,957,991...50,960,193
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G |
HDHD5 |
haloacid dehalogenase like hydrolase domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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NCBI chr 5:69,499,891...69,512,559
Ensembl chr 5:69,500,285...69,512,611
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G |
HIRA |
histone cell cycle regulator |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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NCBI chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409
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G |
IL17RA |
interleukin 17 receptor A |
|
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 5:69,461,280...69,480,343
Ensembl chr 5:69,461,290...69,480,112
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G |
LOC110256626 |
proline dehydrogenase 1, mitochondrial |
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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 chr14:51,624,919...51,644,467
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G |
MICAL3 |
microtubule associated monooxygenase, calponin and LIM domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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NCBI chr 5:69,887,884...70,132,969
Ensembl chr 5:69,887,892...70,059,494
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G |
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 chr14:51,102,900...51,105,769
Ensembl chr14:51,102,613...51,105,767
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G |
PEX26 |
peroxisomal biogenesis factor 26 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
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NCBI chr 5:70,133,024...70,142,515
Ensembl chr 5:70,133,024...70,142,503
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G |
RTL10 |
retrotransposon Gag like 10 |
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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 chr14:51,338,134...51,342,383
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G |
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 chr14:51,252,815...51,260,851
Ensembl chr14:51,252,815...51,261,244
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G |
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 chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...50,978,039
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G |
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 chr14:51,443,597...51,464,370
Ensembl chr14:51,443,638...51,464,367
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G |
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 chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
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G |
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 5:69,484,204...69,488,489
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G |
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 chr14:50,943,017...50,944,093
Ensembl chr14:50,943,017...50,944,093
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G |
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 5:70,154,251...70,174,001
Ensembl chr 5:70,153,922...70,179,970
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G |
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 chr14:51,355,731...51,385,096
Ensembl chr14:51,356,831...51,383,262
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G |
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 chr14:51,113,858...51,132,820
Ensembl chr14:51,113,713...51,133,072
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G |
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 5:70,183,321...70,227,990
Ensembl chr 5:70,183,308...70,229,572
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G |
IFNG |
interferon gamma |
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ISO |
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RGD |
PMID:29950724 |
RGD:14974257 |
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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G |
NFKB1 |
nuclear factor kappa B subunit 1 |
disease_progression |
ISO |
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RGD |
PMID:12370384 |
RGD:40902988 |
NCBI chr 8:118,391,010...118,478,927
Ensembl chr 8:118,390,638...118,506,691
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G |
NFKB2 |
nuclear factor kappa B subunit 2 |
treatment |
ISO |
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RGD |
PMID:12370384 |
RGD:40902988 |
NCBI chr14:113,406,412...113,414,177
Ensembl chr14:113,406,004...113,414,169
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G |
AGER |
advanced glycosylation end-product specific receptor |
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ISO |
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RGD |
PMID:21423669 |
RGD:5508765 |
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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G |
CCL2 |
chemokine (C-C motif) ligand 2 |
severity |
ISO |
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RGD |
PMID:11160230 |
RGD:11528533 |
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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G |
CCL20 |
C-C motif chemokine ligand 20 |
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ISO |
protein:increased expression:lung |
RGD |
PMID:20926800 |
RGD:7483599 |
NCBI chr15:129,172,743...129,176,069
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G |
CCR6 |
C-C motif chemokine receptor 6 |
disease_progression |
ISO |
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RGD |
PMID:17379855 |
RGD:7483617 |
NCBI chr 1:2,016,600...2,034,172
Ensembl chr 1:2,018,608...2,019,821
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G |
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:57,592,032...57,595,706
Ensembl chr X:57,592,038...57,595,692
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G |
CYP2C49 |
cytochrome P450 2C49 |
treatment |
ISO |
DNA:polymorphisms:cds: |
RGD |
PMID:26861072 |
RGD:124713410 |
NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455
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G |
ELANE |
elastase, neutrophil expressed |
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ISO |
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RGD |
PMID:24054721 |
RGD:10450528 |
NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027
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G |
GP91-PHOX |
NADPH oxidase heavy chain subunit |
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ISO |
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RGD |
PMID:24054721 |
RGD:10450528 |
NCBI chr X:33,654,656...33,678,346
Ensembl chr X:33,643,648...33,680,580
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G |
IL17A |
interleukin 17A |
severity |
ISO |
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RGD |
PMID:21807912 |
RGD:8698654 |
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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G |
MBL2 |
mannose binding lectin 2 |
|
ISO |
DNA:SNP:exon:rs5030737(human) |
RGD |
PMID:17311505 |
RGD:8693758 |
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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G |
PTX3 |
pentraxin 3 |
severity |
ISO |
DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527 protein:increased expression:bronchoalveolar lavage fluid (human) |
RGD |
PMID:28487045 PMID:30275011 |
RGD:38501097 RGD:38508892 |
NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
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G |
S100B |
S100 calcium binding protein B |
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ISO |
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RGD |
PMID:21423669 |
RGD:5508765 |
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G |
TLR2 |
toll like receptor 2 |
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ISO |
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RGD |
PMID:16113258 |
RGD:8553022 |
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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G |
TLR4 |
toll like receptor 4 |
susceptibility |
ISO |
DNA:polymorphism:exon:p.D299G(human) |
RGD |
PMID:18275280 |
RGD:5130863 |
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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G |
PTX3 |
pentraxin 3 |
severity |
ISO |
associated with hematologic cancer;DNA:SNP:intron:rs1840680 |
RGD |
PMID:30275011 |
RGD:38501097 |
NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
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G |
CCL2 |
chemokine (C-C motif) ligand 2 |
treatment |
ISO |
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RGD |
PMID:12917249 |
RGD:11528529 |
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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G |
CD209 |
CD209 molecule |
susceptibility |
ISO |
DNA:SNPs:3'utr,intron:multiple |
RGD |
PMID:22384201 |
RGD:39938996 |
NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
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G |
FGF2 |
fibroblast growth factor 2 |
treatment |
ISO |
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RGD |
PMID:23303813 |
RGD:8655596 |
NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
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G |
IL1A |
interleukin 1 alpha |
|
ISO |
DNA:polymorphism, haplotype:promoter:-889C>T (human) |
RGD |
PMID:18484169 |
RGD:4142867 |
NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
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G |
ITIH4 |
inter-alpha-trypsin inhibitor heavy chain 4 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion, serum |
RGD |
PMID:24360996 |
RGD:40903005 |
NCBI chr13:34,928,455...34,948,250
Ensembl chr13:34,928,439...34,948,229
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G |
LOC110258578 |
interleukin-1 beta-like |
|
ISO |
DNA:polymorphism, haplotype: :-511C>T (human) |
RGD |
PMID:18484169 |
RGD:4142867 |
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G |
MBL2 |
mannose binding lectin 2 |
treatment |
ISO |
|
RGD |
PMID:17335555 |
RGD:8693746 |
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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G |
PTX3 |
pentraxin 3 |
susceptibility no_association |
ISO |
protein:increased expression:bronchoalveolar lavage fluid, plasma (human) DNA:SNP:intron:rs1840680 (human) protein:increased expression:plasma DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527 |
RGD |
PMID:29020397 PMID:29964232 |
RGD:38501098 RGD:38508894 |
NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
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G |
VEGFA |
vascular endothelial growth factor A |
treatment |
ISO |
|
RGD |
PMID:23303813 |
RGD:8655596 |
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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G |
AGER |
advanced glycosylation end-product specific receptor |
|
ISO |
protein:increased expression:brain |
RGD |
PMID:25014011 |
RGD:8695986 |
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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G |
ARG1 |
arginase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21232540 |
|
NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,046...32,028,988
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G |
BTK |
Bruton tyrosine kinase |
susceptibility |
ISO |
|
RGD |
PMID:28783468 |
RGD:124715477 |
NCBI chr X:82,981,512...83,014,475
Ensembl chr X:82,981,515...83,014,573
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G |
C3 |
complement C3 |
|
ISO |
|
RGD |
PMID:15378355 |
RGD:7401274 |
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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G |
CCR2 |
C-C motif chemokine receptor 2 |
|
ISO |
|
RGD |
PMID:10899907 |
RGD:8661227 |
NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
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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 chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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G |
CRP |
C-reactive protein, pentraxin-related |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17218153 |
|
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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G |
DUSP1 |
dual specificity phosphatase 1 |
treatment |
ISO |
|
RGD |
PMID:21471446 |
RGD:7771536 |
NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086
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G |
DUSP6 |
dual specificity phosphatase 6 |
treatment |
ISO |
|
RGD |
PMID:21471446 |
RGD:7771536 |
NCBI chr 5:93,303,058...93,307,510
Ensembl chr 5:93,302,975...93,307,504
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G |
IFNG |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:2145107 PMID:16540374 PMID:17218153 |
RGD:7829781 |
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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G |
IL10 |
interleukin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16540374 PMID:20404924 |
|
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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G |
IL18 |
interleukin 18 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:10768930 PMID:16879623 |
RGD:8655909 |
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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G |
IL2 |
interleukin 2 |
|
ISO |
|
RGD |
PMID:6224858 |
RGD:8693326 |
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
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G |
IL21 |
interleukin 21 |
exacerbates |
ISO |
protein:increased expression:popliteal lymph node (mouse) |
RGD |
PMID:22429963 |
RGD:127285547 |
NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
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G |
IL27 |
interleukin 27 |
exacerbates |
ISO |
|
RGD |
PMID:25466588 |
RGD:126790552 |
NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
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G |
IL4 |
interleukin 4 |
treatment |
ISO |
protein:increased expression:serum |
RGD |
PMID:2145107 PMID:2521244 |
RGD:7829781 RGD:7829820 |
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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G |
IL6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16540374 |
|
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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G |
ITGB2 |
integrin subunit beta 2 |
ameliorates |
ISO |
|
RGD |
PMID:14502280 |
RGD:127285813 |
NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,950...207,544,107
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G |
MCL1 |
MCL1 apoptosis regulator, BCL2 family member |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26670606 |
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NCBI chr 4:98,562,092...98,567,014
Ensembl chr 4:98,534,812...98,567,006
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G |
SLC6A4 |
solute carrier family 6 member 4 |
|
ISO |
lupoid leishmaniasis;protein:increased expression:skin of body (human) |
RGD |
PMID:23989888 |
RGD:36947873 |
NCBI chr12:46,285,995...46,328,377
Ensembl chr12:46,285,997...46,314,378
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G |
TNF |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16540374 |
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NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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G |
TNFRSF18 |
TNF receptor superfamily member 18 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20139272 |
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NCBI chr 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405
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G |
TNFSF4 |
TNF superfamily member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10637281 |
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NCBI chr 9:115,535,185...115,857,457
Ensembl chr 9:115,550,569...115,659,263
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G |
TREM1 |
triggering receptor expressed on myeloid cells 1 |
severity |
ISO |
|
RGD |
PMID:24453980 |
RGD:126925972 |
NCBI chr 7:36,510,253...36,531,796
Ensembl chr 7:36,510,253...36,531,796
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G |
VDR |
vitamin D receptor |
|
ISO |
|
RGD |
PMID:17551101 |
RGD:8158083 |
NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
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G |
CCL20 |
C-C motif chemokine ligand 20 |
|
ISO |
protein:increased expression:synovial fluid |
RGD |
PMID:23371320 |
RGD:7488895 |
NCBI chr15:129,172,743...129,176,069
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G |
CXCR2 |
C-X-C motif chemokine receptor 2 |
severity |
ISO |
|
RGD |
PMID:12847259 |
RGD:7257681 |
NCBI chr15:120,219,657...120,230,203
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G |
NOD2 |
nucleotide binding oligomerization domain containing 2 |
|
ISO |
|
RGD |
PMID:21387014 |
RGD:5508754 |
NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
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G |
PLAUR |
plasminogen activator, urokinase receptor |
|
ISO |
mRNA:increased expression:skin |
RGD |
PMID:19461880 |
RGD:6483813 |
NCBI chr 6:50,489,773...50,505,453
Ensembl chr 6:50,489,777...50,505,418
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G |
CCL2 |
chemokine (C-C motif) ligand 2 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:16358960 |
RGD:11528571 |
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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G |
CD40 |
CD40 molecule |
|
ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:16463218 |
RGD:11352252 |
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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G |
CD40LG |
CD40 ligand |
|
ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:16463218 |
RGD:11352252 |
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
treatment |
ISO |
|
RGD |
PMID:24239846 |
RGD:39939054 |
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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G |
LOC110258578 |
interleukin-1 beta-like |
|
ISO |
|
RGD |
PMID:23134838 |
RGD:7193053 |
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G |
ABCB1 |
ATP-binding cassette, sub-family B (MDR/TAP), member 1 |
treatment susceptibility |
ISO |
DNA:SNP: :c3435C>T(human) DNA:hypermethylation:promoter DNA:haplotype: :1236C>T, 2677G>T,3435C>T (human) DNA:SNPs,haplotype: :rs2032582, rs1128503 (human) |
RGD |
PMID:17015054 PMID:19331170 PMID:28422980 PMID:28934955 |
RGD:39456120 RGD:39456123 RGD:39457679 RGD:39457680 |
NCBI chr 9:93,049,955...93,146,469
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G |
ACE |
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 |
severity |
ISO |
|
RGD |
PMID:31234939 |
RGD:39939120 |
NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
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G |
ACKR1 |
atypical chemokine receptor 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Plasmodium vivax, resistance to |
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 chr 4:91,224,089...91,225,610
Ensembl chr 4:91,224,139...91,225,850
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G |
AICDA |
activation induced cytidine deaminase |
|
ISO |
protein:increased expression: B cell |
RGD |
PMID:27980783 |
RGD:30310233 |
NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369
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G |
ANK1 |
ankyrin 1 |
|
ISO |
OMIM:609148 | OMIM:611162 |
MouseDO |
|
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NCBI chr17:10,752,258...10,985,129
Ensembl chr17:10,779,055...10,985,191
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G |
APOE |
apolipoprotein E |
|
ISO |
DNA:missense mutations:cds:p.C112R, p.C158R (human) |
RGD |
PMID:24116184 |
RGD:11039486 |
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
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G |
AQP4 |
aquaporin 4 |
|
ISO |
OMIM:609148 | OMIM:611162 |
MouseDO |
|
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NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
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G |
CBS |
cystathionine beta-synthase |
susceptibility |
ISO |
DNA:insertion:cds: (844ins68) (human) |
RGD |
PMID:27198213 |
RGD:40903062 |
NCBI chr13:206,205,942...206,231,363
Ensembl chr13:206,205,946...206,230,248
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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:18632918 PMID:22290142 |
RGD:127285797 RGD:149735529 |
NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
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G |
CD36 |
CD36 molecule |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to | ClinVar Annotator: match by term: Malaria, susceptibility to |
OMIM ClinVar |
PMID:10890433 PMID:18305138 PMID:19403559 PMID:25741868 |
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NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
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G |
CD40 |
CD40 molecule |
severity |
ISO |
|
RGD |
PMID:11485931 |
RGD:11352239 |
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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G |
CD40LG |
CD40 ligand |
severity |
ISO |
|
RGD |
PMID:11485931 |
RGD:11352239 |
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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G |
CISH |
cytokine inducible SH2 containing protein |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, susceptibility to |
OMIM ClinVar |
PMID:20484391 |
|
NCBI chr13:33,086,280...33,090,540
Ensembl chr13:33,085,286...33,090,858
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G |
CR1 |
complement C3b/C4b receptor 1 (Knops blood group) |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, severe, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to |
OMIM ClinVar |
PMID:10528197 PMID:14694201 PMID:20855594 PMID:25741868 |
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NCBI chr 9:68,025,673...68,132,162
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G |
CRP |
C-reactive protein, pentraxin-related |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8730300 |
|
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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G |
CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
disease_progression treatment |
ISO |
|
RGD |
PMID:28892065 |
RGD:38455986 |
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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G |
EPHB2 |
EPH receptor B2 |
|
ISO |
mRNA:increased expression:liver |
RGD |
PMID:25784101 |
RGD:127285023 |
NCBI chr 6:80,649,098...80,849,979
Ensembl chr 6:80,650,740...80,843,567
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G |
EPHB3 |
EPH receptor B3 |
|
ISO |
|
RGD |
PMID:25784101 |
RGD:127285023 |
NCBI chr13:122,467,561...122,488,296
Ensembl chr13:122,467,588...122,488,292
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G |
EPHB6 |
EPH receptor B6 |
|
ISO |
|
RGD |
PMID:25784101 |
RGD:127285023 |
NCBI chr18:7,346,793...7,419,859
Ensembl chr18:7,346,565...7,389,504
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G |
FCGR2B |
Fc fragment of IgG, low affinity IIb, receptor (CD32) |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, resistance to |
OMIM ClinVar |
PMID:12115230 PMID:15459183 PMID:16115811 PMID:16170323 PMID:17435165 PMID:20385827 More...
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NCBI chr 4:88,873,762...88,892,964
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G |
FOXP3 |
forkhead box P3 |
disease_progression |
ISO |
|
RGD |
PMID:16169501 PMID:19338000 |
RGD:38455985 RGD:38455992 |
NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
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|
G |
G6PD |
glucose-6-phosphate dehydrogenase |
susceptibility severity |
ISO |
ClinVar Annotator: match by term: Malaria, susceptibility to | ClinVar Annotator: match by term: Plasmodium vivax, resistance 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:24615128 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 More...
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RGD:10449115 |
NCBI chr X:125,029,147...125,041,040
Ensembl chr X:125,029,150...125,041,040
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|
G |
GYPA |
glycophorin A (MNS blood group) |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
|
|
NCBI chr 8:84,037,574...84,067,096
|
|
G |
GYPC |
glycophorin C (Gerbich blood group) |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, resistance to |
OMIM ClinVar |
PMID:1991173 PMID:5011657 PMID:8157284 PMID:11719395 PMID:12469115 PMID:21061946 More...
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NCBI chr15:25,576,343...25,606,913
Ensembl chr15:25,576,567...25,579,306
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HMOX1 |
heme oxygenase 1 |
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ISO |
OMIM:609148 | OMIM:611162 |
MouseDO |
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HP |
haptoglobin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8730300 PMID:16597321 |
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NCBI chr 6:14,980,382...14,985,245
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ICAM1 |
intercellular adhesion molecule 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to | ClinVar Annotator: match by term: Malaria, susceptibility to |
OMIM ClinVar |
PMID:9259284 PMID:9861406 PMID:10417733 PMID:10699175 PMID:23609612 PMID:25741868 More...
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NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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IFNG |
interferon gamma |
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ISO |
OMIM:609148 | OMIM:611162 |
MouseDO |
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NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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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:125,035,575...125,056,445
Ensembl chr X:125,036,508...125,056,453
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IL1RL1 |
interleukin 1 receptor like 1 |
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ISO |
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RGD |
PMID:28359899 |
RGD:39938859 |
NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
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IL21 |
interleukin 21 |
exacerbates |
ISO |
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RGD |
PMID:25763578 |
RGD:127285358 |
NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
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IL27 |
interleukin 27 |
ameliorates |
ISO |
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RGD |
PMID:24522137 PMID:26968425 |
RGD:11530371 RGD:126790512 |
NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
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IL33 |
interleukin 33 |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:28359899 |
RGD:39938859 |
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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LTBR |
lymphotoxin beta receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15788153 |
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NCBI chr 5:64,271,372...64,278,422
Ensembl chr 5:64,270,310...64,287,523
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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 chr13:33,097,329...33,125,820
Ensembl chr13:33,097,393...33,125,818
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MIR122 |
microRNA mir-122 |
treatment |
ISO |
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RGD |
PMID:28123381 |
RGD:35673288 |
NCBI chr 1:162,329,776...162,329,860
Ensembl chr 1:162,329,767...162,329,860
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MIR142 |
microRNA mir-142 |
treatment |
ISO |
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RGD |
PMID:28123381 |
RGD:35673288 |
NCBI chr12:34,609,378...34,609,457
Ensembl chr12:34,609,364...34,609,468
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MIRLET7A-2 |
microRNA let-7a-2 |
treatment |
ISO |
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RGD |
PMID:28123381 |
RGD:35673288 |
NCBI chr 3:43,465,667...43,465,758
Ensembl chr 3:43,465,667...43,465,758
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MIRLET7C |
microRNA let-7c |
treatment |
ISO |
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RGD |
PMID:28123381 |
RGD:35673288 |
NCBI chr13:181,303,209...181,303,302
Ensembl chr13:181,303,209...181,303,302
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MKI67 |
marker of proliferation Ki-67 |
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ISO |
associated with Lung Neoplasms |
RGD |
PMID:21931708 |
RGD:6483517 |
NCBI chr14:137,266,622...137,296,312
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NCR3 |
natural cytotoxicity triggering receptor 3 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, severe, susceptibility to |
OMIM ClinVar |
PMID:17208487 |
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NCBI chr 7:23,713,333...23,716,988
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NOS2 |
nitric oxide synthase 2 |
susceptibility |
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 |
OMIM ClinVar |
PMID:9457101 PMID:12433515 PMID:31995689 |
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NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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PCD1B |
CD1B antigen |
exacerbates ameliorates |
ISO |
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RGD |
PMID:12938235 PMID:24703850 |
RGD:127345117 RGD:127345121 |
NCBI chr 4:92,035,122...92,040,724
Ensembl chr 4:92,031,712...92,040,742
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PKLR |
pyruvate kinase L/R |
susceptibility |
ISO |
DNA:mutations, haplotype:multiple (human) OMIM:609148 | OMIM:611162 DNA:missense mutation:cds:p.I90N (mouse) |
RGD MouseDO |
PMID:14595440 PMID:20377593 |
RGD:11535999 RGD:11537407 |
NCBI chr 4:94,536,978...94,546,561
Ensembl chr 4:94,537,019...94,546,555
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PRF1 |
perforin 1 |
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ISO |
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RGD |
PMID:21525386 |
RGD:6482803 |
NCBI chr14:73,515,306...73,520,256
Ensembl chr14:73,512,769...73,520,202
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PROCR |
protein C receptor |
disease_progression |
ISO |
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RGD |
PMID:27671831 |
RGD:126848795 |
NCBI chr17:38,532,530...38,537,397
Ensembl chr17:38,532,763...38,537,394
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SLC19A1 |
solute carrier family 19 member 1 |
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ISO |
DNA:SNP::g.80G>A (human) |
RGD |
PMID:27198213 |
RGD:40903062 |
NCBI chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675
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SLC4A1 |
solute carrier family 4 member 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, cerebral, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to |
OMIM 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 chr12:18,957,813...18,975,266
Ensembl chr12:18,957,807...18,974,208
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SPP1 |
secreted phosphoprotein 1 |
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ISO |
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RGD |
PMID:16552072 |
RGD:1581333 |
NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
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TBX21 |
T-box transcription factor 21 |
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ISO |
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RGD |
PMID:19338000 |
RGD:38455985 |
NCBI chr12:23,996,415...24,009,353
Ensembl chr12:23,996,415...24,009,355
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TIRAP |
TIR domain containing adaptor protein |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, resistance to |
OMIM ClinVar |
PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868 |
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NCBI chr 9:53,374,559...53,394,172
Ensembl chr 9:53,375,644...53,394,165
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TNF |
tumor necrosis factor |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to |
OMIM ClinVar |
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 More...
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NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TREM1 |
triggering receptor expressed on myeloid cells 1 |
severity |
ISO |
DNA:SNP: :rs2234237A>T (human) |
RGD |
PMID:27671831 |
RGD:126848795 |
NCBI chr 7:36,510,253...36,531,796
Ensembl chr 7:36,510,253...36,531,796
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TSLP |
thymic stromal lymphopoietin |
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ISO |
mRNA:altered expression:multiple (mouse) |
RGD |
PMID:28955823 |
RGD:38596344 |
NCBI chr 2:115,832,152...115,837,572
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FCGR3A |
Fc fragment of IgG receptor IIIa |
susceptibility severity |
ISO |
DNA:polymorphism: :p.F176V (human) |
RGD |
PMID:20231419 PMID:23045477 |
RGD:11040771 RGD:11344971 |
NCBI chr 4:88,948,357...88,956,513
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SLC4A1 |
solute carrier family 4 member 1 |
severity |
ISO |
DNA:snp:promoter:g.-5699T>C (human) |
RGD |
PMID:16960783 |
RGD:10450507 |
NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,807...18,974,208
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TLR9 |
toll like receptor 9 |
susceptibility |
ISO |
DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) |
RGD |
PMID:23045477 |
RGD:11344971 |
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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TLR2 |
toll like receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29253318 |
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NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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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 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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LTA |
lymphotoxin alpha |
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ISO |
DNA:polymorphism:intron |
RGD |
PMID:7595196 |
RGD:8548799 |
NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
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TNF |
tumor necrosis factor |
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ISO |
DNA:SNP:promoter:-308G>A (human) |
RGD |
PMID:7595196 |
RGD:8548799 |
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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CYP1A1 |
cytochrome P450 family 1 subfamily A member 1 |
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ISO |
protein:increased expression:liver (rat) |
RGD |
PMID:12621079 |
RGD:2306675 |
NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
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G |
IL1RL1 |
interleukin 1 receptor like 1 |
severity |
ISO |
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RGD |
PMID:27697499 |
RGD:40400689 |
NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
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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 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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IL4 |
interleukin 4 |
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ISO |
mRNA:increased expression:spleen |
RGD |
PMID:17570971 |
RGD:2317296 |
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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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 chr13:135,416,709...135,446,337
Ensembl chr13:135,412,425...135,442,691
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G |
MUC2 |
mucin 2, oligomeric mucus/gel-forming |
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ISO |
mRNA:increased expression:intestine |
RGD |
PMID:16689826 PMID:20138044 |
RGD:2303607 RGD:7349349 |
NCBI chr 2:689,363...719,542
Ensembl chr 2:689,364...710,330
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G |
MUC4 |
mucin 4, cell surface associated |
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ISO |
mRNA:increased expression:intestine protein:increased expression:cecum, glycocalyx |
RGD |
PMID:16689826 PMID:21155842 |
RGD:2303607 RGD:7364766 |
NCBI chr13:134,192,412...134,248,435
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MUC5AC |
mucin 5AC, oligomeric mucus/gel-forming |
resistance |
ISO |
mRNA:increased expression:cecum |
RGD |
PMID:20138044 PMID:22269441 |
RGD:7349349 RGD:7364747 |
NCBI chr 2:757,897...790,321
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G |
PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
susceptibility |
ISO |
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RGD |
PMID:11850627 |
RGD:737789 |
NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609
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G |
TNFRSF1A |
TNF receptor superfamily member 1A |
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ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:20695884 |
RGD:5130965 |
NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
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IL1R1 |
interleukin 1 receptor type 1 |
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ISO |
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RGD |
PMID:19168746 |
RGD:8662882 |
NCBI chr 3:52,192,912...52,334,734
Ensembl chr 3:52,192,915...52,288,485
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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 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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ANXA1 |
annexin A1 |
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ISO |
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RGD |
PMID:22740770 |
RGD:7421536 |
NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,306...226,432,279
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G |
IL10 |
interleukin 10 |
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ISO |
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RGD |
PMID:19026704 |
RGD:7365028 |
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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G |
IL17A |
interleukin 17A |
treatment |
ISO |
protein:increased expression:aqueous humor (human) |
RGD |
PMID:22927448 |
RGD:8698652 |
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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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 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
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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 chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
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G |
IL13 |
interleukin 13 |
severity |
ISO |
protein:increased expression:serum |
RGD |
PMID:22805723 |
RGD:8549600 |
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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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 chr15:20,104,808...20,171,721
Ensembl chr15:20,104,812...20,167,421
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G |
MIR192 |
microRNA mir-192 |
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ISO |
RNA:increased expression:urine |
RGD |
PMID:26456596 |
RGD:41404678 |
NCBI chr 2:7,285,667...7,285,746
Ensembl chr 2:7,285,667...7,285,746
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G |
CEBPB |
CCAAT enhancer binding protein beta |
susceptibility |
ISO |
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RGD |
PMID:26317211 |
RGD:11079756 |
NCBI chr17:51,722,633...51,723,673
Ensembl chr17:51,722,426...51,724,305
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G |
IL23A |
interleukin 23 subunit alpha |
severity |
ISO |
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RGD |
PMID:19204111 |
RGD:39457957 |
NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
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G |
LCN2 |
lipocalin 2 |
no_association |
ISO |
mRNA:increased expression:tongues: |
RGD |
PMID:24343647 |
RGD:126725083 |
NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644
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G |
LTF |
lactotransferrin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16640825 |
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NCBI chr13:29,413,886...29,445,751
Ensembl chr13:29,413,886...29,445,739
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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 6:93,541,334...93,551,200
Ensembl chr 6:93,541,334...93,551,193
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G |
IL2RB |
interleukin 2 receptor subunit beta |
ameliorates |
ISO |
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RGD |
PMID:21301182 |
RGD:42724469 |
NCBI chr 5:10,610,094...10,650,315
Ensembl chr 5:10,628,962...10,650,314
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G |
IL33 |
interleukin 33 |
treatment |
ISO |
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RGD |
PMID:25912172 |
RGD:39939026 |
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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G |
IL5 |
interleukin 5 |
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ISO |
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RGD |
PMID:15534922 |
RGD:11354941 |
NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
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GNAS |
GNAS complex locus |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
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NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021
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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 chr18:4,993,213...5,279,668
Ensembl chr18:4,993,227...5,278,723
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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 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
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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 6:61,281,931...61,307,788
Ensembl chr 6:61,285,456...61,292,885
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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 chr12:34,631,574...34,695,021
Ensembl chr12:34,635,228...34,694,378
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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 chr13:177,365,712...179,040,027
Ensembl chr13:177,365,772...179,013,542
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G |
SMAD4 |
SMAD family member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
|
NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029
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G |
TP53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
|
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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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 1:272,912,239...272,935,316
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G |
ADAMTS13 |
ADAM metallopeptidase with thrombospondin type 1 motif 13 |
|
ISO |
protein:decreased activity:plasma (human) |
RGD |
PMID:20062916 |
RGD:10449041 |
NCBI chr 1:273,022,014...273,066,916
Ensembl chr 1:273,024,009...273,056,039
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G |
BSG |
basigin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22080952 PMID:26195724 |
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NCBI chr 2:77,735,586...77,743,451
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G |
CAST |
calpastatin |
|
ISO |
protein:alter localization:erythrocyte |
RGD |
PMID:17359359 |
RGD:5509812 |
NCBI chr 2:103,255,738...103,378,623
Ensembl chr 2:103,255,750...103,378,623
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G |
CCL4 |
C-C motif chemokine ligand 4 |
|
ISO |
mRNA, protein:increased expression:blood, |
RGD |
PMID:15972509 |
RGD:5683898 |
NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082
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G |
CLEC11A |
C-type lectin domain containing 11A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19884328 |
|
NCBI chr 6:55,502,892...55,505,690
Ensembl chr 6:55,496,746...55,506,550
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G |
CR1 |
complement C3b/C4b receptor 1 (Knops blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9230440 PMID:11724985 |
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NCBI chr 9:68,025,673...68,132,162
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G |
CYP2C49 |
cytochrome P450 2C49 |
treatment |
ISO |
DNA:polymorphisms:: |
RGD |
PMID:10471063 |
RGD:124713538 |
NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455
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G |
FAS |
Fas cell surface death receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625619 |
|
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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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:125,029,147...125,041,040
Ensembl chr X:125,029,150...125,041,040
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G |
HP |
haptoglobin |
severity |
ISO |
DNA:missense mutation:cds:p.K54E (human) |
RGD |
PMID:24478401 |
RGD:11041793 |
NCBI chr 6:14,980,382...14,985,245
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G |
IL13 |
interleukin 13 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:21985368 |
RGD:5684362 |
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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G |
LOC100739508 |
glutathione S-transferase P-like |
severity |
ISO |
|
RGD |
PMID:19635899 |
RGD:10450848 |
NCBI chr 2:5,005,498...5,009,247
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G |
MBL2 |
mannose binding lectin 2 |
susceptibility |
ISO |
DNA:haplotype:exon: |
RGD |
PMID:18396436 |
RGD:11530064 |
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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G |
TNF |
tumor necrosis factor |
severity |
ISO |
protein:increased expression:plasma |
RGD |
PMID:1984482 |
RGD:10450571 |
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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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 chr 4:91,224,089...91,225,610
Ensembl chr 4:91,224,139...91,225,850
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G |
AZIN1 |
antizyme inhibitor 1 |
|
ISO |
mRNA:increased expression:alveolar macrophage |
RGD |
PMID:19158080 |
RGD:14700806 |
NCBI chr 4:34,221,368...34,257,261
Ensembl chr 4:34,234,679...34,257,134
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G |
C3 |
complement C3 |
|
ISO |
|
RGD |
PMID:17169032 |
RGD:5129525 |
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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G |
CCL2 |
chemokine (C-C motif) ligand 2 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:20618689 |
RGD:4891428 |
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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G |
CD40 |
CD40 molecule |
treatment |
ISO |
|
RGD |
PMID:10968950 |
RGD:8547797 |
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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G |
CSF2 |
colony stimulating factor 2 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:19487471 |
RGD:5131475 |
NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155
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G |
IL23A |
interleukin 23 subunit alpha |
|
ISO |
|
RGD |
PMID:17403873 |
RGD:39458043 |
NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
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G |
IL33 |
interleukin 33 |
treatment |
ISO |
|
RGD |
PMID:21220696 |
RGD:40400892 |
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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G |
MUC1 |
mucin 1, cell surface associated |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:9617869 |
RGD:5131424 |
NCBI chr 4:94,626,317...94,631,194
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G |
NOS2 |
nitric oxide synthase 2 |
|
ISO |
mRNA:increased expression:alveolar macrophage protein:decreased dimerization:alveolar macrophage |
RGD |
PMID:20377877 PMID:20558778 |
RGD:4144112 RGD:4891486 |
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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G |
SFTPA1 |
surfactant protein A1 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:11385364 |
RGD:4143431 |
NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393
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G |
SFTPB |
surfactant protein B |
|
ISO |
protein:decreased expression:lung |
RGD |
PMID:11385364 |
RGD:4143431 |
NCBI chr 3:59,101,940...59,113,442
Ensembl chr 3:59,101,981...59,112,396
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G |
SFTPC |
surfactant protein C |
|
ISO |
protein:decreased expression:lung |
RGD |
PMID:11385364 |
RGD:4143431 |
NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095
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G |
SFTPD |
surfactant protein D |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:11385364 |
RGD:4143431 |
NCBI chr14:82,051,400...82,069,258
Ensembl chr14:82,051,451...82,067,976
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G |
TLR2 |
toll like receptor 2 |
|
ISO |
|
RGD |
PMID:18400546 |
RGD:4145341 |
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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G |
IL10 |
interleukin 10 |
|
ISO |
|
RGD |
PMID:24717969 |
RGD:11041890 |
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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G |
PTX3 |
pentraxin 3 |
|
ISO |
protein:increased expression:bronchoalveolar lavage fluid, plasma (human) |
RGD |
PMID:29964232 |
RGD:38508894 |
NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
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G |
CAT |
catalase |
treatment |
ISO |
|
RGD |
PMID:17884035 |
RGD:9479747 |
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
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G |
AGER |
advanced glycosylation end-product specific receptor |
|
ISO |
protein:decreased expression:lung (mouse) |
RGD |
PMID:23369670 |
RGD:7243187 |
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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G |
BUD31 |
BUD31 homolog |
|
ISO |
Protein:increased expression:serum (human) |
RGD |
PMID:22686541 |
RGD:10058982 |
NCBI chr 3:6,355,249...6,361,211
Ensembl chr 3:6,355,244...6,361,207
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G |
IL33 |
interleukin 33 |
|
ISO |
mRNA,protein:increased expression:liver |
RGD |
PMID:29554131 |
RGD:39938854 |
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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G |
PRDX1 |
peroxiredoxin 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19041905 |
|
NCBI chr 6:165,847,390...165,859,918
Ensembl chr 6:165,824,395...165,861,442
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G |
RASSF1 |
Ras association domain family member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23527093 |
|
NCBI chr13:32,816,156...32,825,486
Ensembl chr13:32,816,156...32,825,226
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G |
STING1 |
stimulator of interferon response cGAMP interactor 1 |
|
ISO |
|
RGD |
PMID:32404867 |
RGD:39128195 |
NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
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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 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581
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G |
IL18 |
interleukin 18 |
treatment |
ISO |
|
RGD |
PMID:19467215 |
RGD:14696662 |
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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G |
IL33 |
interleukin 33 |
severity treatment |
ISO |
protein:increased expression:serum |
RGD |
PMID:22590860 PMID:25944738 |
RGD:39939027 RGD:40400890 |
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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G |
PCD1B |
CD1B antigen |
treatment |
ISO |
|
RGD |
PMID:33283278 |
RGD:127345110 |
NCBI chr 4:92,035,122...92,040,724
Ensembl chr 4:92,031,712...92,040,742
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G |
PDCD1 |
programmed cell death 1 |
severity |
ISO |
protein:increased expression:CD4 T cell |
RGD |
PMID:27792733 |
RGD:40818413 |
NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
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G |
SERPINH1 |
serpin family H member 1 |
|
ISO |
mRNA,protein:increased expression:liver, serum (mouse) |
RGD |
PMID:31612672 |
RGD:41412161 |
NCBI chr 9:9,782,939...9,794,485
Ensembl chr 9:9,783,042...9,794,483
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G |
ALDH1A2 |
aldehyde dehydrogenase 1 family member A2 |
|
ISO |
mRNA:increased expression:macrophage |
RGD |
PMID:22927819 |
RGD:14367882 |
NCBI chr 1:113,932,722...114,037,059
Ensembl chr 1:113,932,739...114,037,046
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G |
CD40 |
CD40 molecule |
treatment |
ISO |
|
RGD |
PMID:10623823 |
RGD:11520789 |
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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G |
CD86 |
CD86 molecule |
|
ISO |
protein:increased expression:peripheral blood, eosinophil (human) |
RGD |
PMID:17308795 |
RGD:11354987 |
NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
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G |
IHH |
Indian hedgehog signaling molecule |
|
ISO |
|
RGD |
PMID:23121638 |
RGD:12910981 |
NCBI chr15:121,083,750...121,090,548
Ensembl chr15:121,083,753...121,090,121
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G |
IL13 |
interleukin 13 |
treatment |
ISO |
|
RGD |
PMID:10903803 |
RGD:8549615 |
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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G |
MAP3K8 |
mitogen-activated protein kinase kinase kinase 8 |
exacerbates |
ISO |
|
RGD |
PMID:27487182 |
RGD:151356963 |
NCBI chr10:40,714,004...40,746,390
Ensembl chr10:40,713,847...40,742,462
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G |
NOS2 |
nitric oxide synthase 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9673227 |
|
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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G |
SOD1 |
superoxide dismutase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16564582 |
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NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
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G |
TLR9 |
toll like receptor 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19797157 |
|
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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G |
TREM1 |
triggering receptor expressed on myeloid cells 1 |
|
ISO |
|
RGD |
PMID:21332515 |
RGD:126925988 |
NCBI chr 7:36,510,253...36,531,796
Ensembl chr 7:36,510,253...36,531,796
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G |
TSLP |
thymic stromal lymphopoietin |
treatment |
ISO |
|
RGD |
PMID:22882457 |
RGD:38596354 |
NCBI chr 2:115,832,152...115,837,572
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G |
NOS2 |
nitric oxide synthase 2 |
|
ISO |
protein:altered activity:brain, peritoneal macrophage |
RGD |
PMID:20169057 |
RGD:4891375 |
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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G |
TSLP |
thymic stromal lymphopoietin |
susceptibility |
ISO |
protein:increased expression:serum (mouse) |
RGD |
PMID:28769924 |
RGD:38549587 |
NCBI chr 2:115,832,152...115,837,572
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G |
AICDA |
activation induced cytidine deaminase |
|
ISO |
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RGD |
PMID:23630966 |
RGD:32716404 |
NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369
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G |
IL33 |
interleukin 33 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:22331917 |
RGD:40400742 |
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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G |
PLAU |
plasminogen activator, urokinase |
|
ISO |
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RGD |
PMID:18022622 |
RGD:6484141 |
NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
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G |
IL18 |
interleukin 18 |
treatment |
ISO |
|
RGD |
PMID:16129701 |
RGD:8655932 |
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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G |
IL5 |
interleukin 5 |
severity |
ISO |
|
RGD |
PMID:9824515 |
RGD:11354934 |
NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
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G |
IL33 |
interleukin 33 |
|
ISO |
influenza and Pneumonia, Staphylococcal |
RGD |
PMID:28401938 |
RGD:40400699 |
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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G |
MPO |
myeloperoxidase |
severity |
ISO |
|
RGD |
PMID:12085336 |
RGD:40903072 |
NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
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G |
TNF |
tumor necrosis factor |
|
ISO |
mRNA, protein:increased expression:spleen, plasma |
RGD |
PMID:11562071 |
RGD:10449457 |
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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G |
IL1A |
interleukin 1 alpha |
|
ISO |
|
RGD |
PMID:7835923 |
RGD:7794724 |
NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
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G |
RAPGEF3 |
Rap guanine nucleotide exchange factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24218580 |
|
NCBI chr 5:78,101,286...78,134,150
Ensembl chr 5:78,101,299...78,134,105
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G |
CD40 |
CD40 molecule |
|
ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:16463218 |
RGD:11352252 |
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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G |
CD40LG |
CD40 ligand |
|
ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:16463218 |
RGD:11352252 |
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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G |
TSLP |
thymic stromal lymphopoietin |
|
ISO |
mRNA:increased expression:multiple (mouse) |
RGD |
PMID:24327787 |
RGD:38596353 |
NCBI chr 2:115,832,152...115,837,572
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G |
CCL11 |
chemokine (C-C motif) ligand 11 |
|
ISO |
protein:increased expression:plasma, respiratory system fluid/secretion |
RGD |
PMID:16168564 |
RGD:7248410 |
NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893
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G |
IL4 |
interleukin 4 |
treatment |
ISO |
|
RGD |
PMID:26732352 |
RGD:11534298 |
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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G |
OLIG2 |
oligodendrocyte transcription factor 2 |
|
ISO |
|
RGD |
PMID:25773181 |
RGD:40902825 |
NCBI chr13:196,596,838...196,602,197
Ensembl chr13:196,599,822...196,600,793
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G |
BAX |
BCL2 associated X, apoptosis regulator |
|
ISO |
|
RGD |
PMID:24812878 |
RGD:10054127 |
NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140
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G |
IL27 |
interleukin 27 |
susceptibility |
ISO |
|
RGD |
PMID:22981537 PMID:31548322 |
RGD:126790501 RGD:126790522 |
NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
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G |
NFKBIA |
NFKB inhibitor alpha |
exacerbates |
ISO |
human gene in a mouse model |
RGD |
PMID:12626571 |
RGD:126925984 |
NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
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G |
UCP2 |
uncoupling protein 2 |
susceptibility |
ISO |
|
RGD |
PMID:11101840 |
RGD:737759 |
NCBI chr 9:8,358,559...8,364,552
Ensembl chr 9:8,358,025...8,365,547
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IL10 |
interleukin 10 |
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ISO |
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RGD |
PMID:23465441 |
RGD:11049476 |
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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LTA |
lymphotoxin alpha |
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ISO |
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RGD |
PMID:19564380 |
RGD:8548805 |
NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
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SLC17A8 |
solute carrier family 17 member 8 |
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ISO |
protein:increased expression:dorsal horn of spinal cord, dorsal root ganglion |
RGD |
PMID:22160634 |
RGD:9999169 |
NCBI chr 5:83,741,641...83,809,472
Ensembl chr 5:83,741,715...83,800,808
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SLC6A4 |
solute carrier family 6 member 4 |
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ISO |
protein:decreased expression:jejunum (mouse) |
RGD |
PMID:16336502 |
RGD:38676482 |
NCBI chr12:46,285,995...46,328,377
Ensembl chr12:46,285,997...46,314,378
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TNF |
tumor necrosis factor |
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ISO |
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RGD |
PMID:19564380 |
RGD:8548805 |
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TSLP |
thymic stromal lymphopoietin |
disease_progression |
ISO |
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RGD |
PMID:23024277 |
RGD:38596337 |
NCBI chr 2:115,832,152...115,837,572
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FOXP1 |
forkhead box P1 |
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ISO |
mRNA:increased expression:duodenum (rat) |
RGD |
PMID:21698235 |
RGD:11561920 |
NCBI chr13:52,346,844...52,974,358
Ensembl chr13:52,348,234...52,876,892
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IFNG |
interferon gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20864659 |
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NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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MPO |
myeloperoxidase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20864659 |
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NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
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TSLP |
thymic stromal lymphopoietin |
susceptibility |
ISO |
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RGD |
PMID:19273626 |
RGD:38549593 |
NCBI chr 2:115,832,152...115,837,572
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A2M |
alpha-2-macroglobulin |
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ISO |
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RGD |
PMID:17722867 |
RGD:10046041 |
NCBI chr 5:62,406,928...62,483,690
Ensembl chr 5:62,440,810...62,483,678
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ADA |
adenosine deaminase |
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ISO |
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RGD |
PMID:20809996 |
RGD:5128861 |
NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245
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BCHE |
butyrylcholinesterase |
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ISO |
protein:decreased expression:plasma |
RGD |
PMID:20138875 |
RGD:5687328 |
NCBI chr13:104,946,732...105,007,568
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CXCL8 |
C-X-C motif chemokine ligand 8 |
disease_progression |
ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:25375156 |
RGD:150521552 |
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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HP |
haptoglobin |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:19567273 |
RGD:11041867 |
NCBI chr 6:14,980,382...14,985,245
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IL4 |
interleukin 4 |
treatment |
ISO |
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RGD |
PMID:24731531 |
RGD:10402804 |
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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PCD1B |
CD1B antigen |
exacerbates |
ISO |
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RGD |
PMID:15731095 |
RGD:127345115 |
NCBI chr 4:92,035,122...92,040,724
Ensembl chr 4:92,031,712...92,040,742
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PRF1 |
perforin 1 |
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ISO |
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RGD |
PMID:19651871 |
RGD:6482814 |
NCBI chr14:73,515,306...73,520,256
Ensembl chr14:73,512,769...73,520,202
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TLR9 |
toll like receptor 9 |
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ISO |
mRNA:increased expression:liver (mouse) |
RGD |
PMID:18565585 |
RGD:18337478 |
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
susceptibility |
ISO |
DNA:SNPs:multiple:Gabonese(human) |
RGD |
PMID:22288822 |
RGD:7204674 |
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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IL5 |
interleukin 5 |
resistance |
ISO |
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RGD |
PMID:9697734 |
RGD:7241010 |
NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
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PCD1B |
CD1B antigen |
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ISO |
protein:increased expression:B cell (human) |
RGD |
PMID:22347409 |
RGD:127345101 |
NCBI chr 4:92,035,122...92,040,724
Ensembl chr 4:92,031,712...92,040,742
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STAT6 |
signal transducer and activator of transcription 6 |
severity |
ISO |
DNA:SNP:enhancer: (rs324013) |
RGD |
PMID:18273035 |
RGD:7243977 |
NCBI chr 5:22,406,356...22,422,412
Ensembl chr 5:22,406,368...22,421,989
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AICDA |
activation induced cytidine deaminase |
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ISO |
mRNA:altered expression:Bcell,CD4Tcell |
RGD |
PMID:31001826 |
RGD:32716386 |
NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369
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G |
CCL4 |
C-C motif chemokine ligand 4 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21991751 |
RGD:5683905 |
NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082
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CCR2 |
C-C motif chemokine receptor 2 |
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ISO |
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RGD |
PMID:24818662 |
RGD:8661728 |
NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
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G |
CCR2 |
C-C motif chemokine receptor 2 |
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ISO |
protein:increased expression:blood, T cell |
RGD |
PMID:15379987 |
RGD:6893393 |
NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,376,343
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CCR5 |
C-C motif chemokine receptor 5 |
treatment |
ISO |
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RGD |
PMID:24617012 |
RGD:14401738 |
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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CD163 |
CD163 molecule |
exacerbates |
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:28355218 |
RGD:127345133 |
NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
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CD40 |
CD40 molecule |
treatment |
ISO |
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RGD |
PMID:14573667 |
RGD:8547750 |
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CD40LG |
CD40 ligand |
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ISO |
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RGD |
PMID:14573667 |
RGD:8547750 |
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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CRP |
C-reactive protein, pentraxin-related |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10467834 |
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NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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G |
CSF2 |
colony stimulating factor 2 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:8035028 PMID:17404324 |
RGD:10449527 |
NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155
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G |
CXCL10 |
C-X-C motif chemokine ligand 10 |
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ISO |
mRNA:increased expression:liver |
RGD |
PMID:16239557 |
RGD:27095947 |
NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
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G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
treatment susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP:promoter:g.-251A>T (human) |
CTD RGD |
PMID:22461696 PMID:25821028 PMID:32984951 |
RGD:150523789 RGD:150523791 |
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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HMOX1 |
heme oxygenase 1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22461696 PMID:23729024 |
RGD:42724459 |
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IFNG |
interferon gamma |
treatment |
ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:1901333 PMID:3104456 PMID:7854095 PMID:27999013 |
RGD:40890273 RGD:8158041 |
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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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 chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL10RA |
interleukin 10 receptor subunit alpha |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15716043 |
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NCBI chr 9:45,310,527...45,324,557
Ensembl chr 9:45,310,534...45,325,168
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G |
IL18 |
interleukin 18 |
susceptibility |
ISO |
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RGD |
PMID:16879623 |
RGD:8655922 |
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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IL27 |
interleukin 27 |
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ISO |
mRNA, protein:increased expression:spleen, liver (mouse) |
RGD |
PMID:27245409 |
RGD:126790520 |
NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
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IL2RB |
interleukin 2 receptor subunit beta |
susceptibility |
ISO |
DNA:polymorphisms:exon:8777, 8838(human) |
RGD |
PMID:17108990 |
RGD:42724466 |
NCBI chr 5:10,610,094...10,650,315
Ensembl chr 5:10,628,962...10,650,314
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IL6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7554475 PMID:17404324 PMID:22461696 |
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NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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IRF5 |
interferon regulatory factor 5 |
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ISO |
protein:increased expression:CD4 T cell, nucleus |
RGD |
PMID:30067973 PMID:32038622 |
RGD:40924560 RGD:40924629 |
NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,687...19,691,243
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G |
LOC110258578 |
interleukin-1 beta-like |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17404324 |
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LTA |
lymphotoxin alpha |
severity |
ISO |
DNA:polymorphisms |
RGD |
PMID:12438370 PMID:15579454 |
RGD:8548784 RGD:8548789 |
NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
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LTB |
lymphotoxin beta |
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ISO |
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RGD |
PMID:12115620 |
RGD:8548822 |
NCBI chr 7:23,704,842...23,707,036
Ensembl chr 7:23,704,841...23,706,745
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G |
MBL2 |
mannose binding lectin 2 |
susceptibility disease_progression |
ISO |
DNA:SNPs,haplotype:promoter,exon: DNA:polymorphism:promoter: protein:increased expression:serum: |
RGD |
PMID:17357060 PMID:22995279 PMID:26297290 |
RGD:11522692 RGD:8693721 RGD:8693726 |
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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MIR155 |
microRNA mir-155 |
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ISO |
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RGD |
PMID:31182615 |
RGD:21081525 |
NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
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G |
MIR21 |
microRNA mir-21 |
treatment |
ISO |
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RGD |
PMID:31608064 |
RGD:40925951 |
NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
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NFE2L2 |
NFE2 like bZIP transcription factor 2 |
treatment |
ISO |
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RGD |
PMID:23729024 |
RGD:42724459 |
NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
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PIK3CD |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
treatment |
ISO |
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RGD |
PMID:27999013 |
RGD:40890273 |
NCBI chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,084,742
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G |
SLC11A1 |
solute carrier family 11 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16597321 PMID:17067929 |
RGD:5684944 |
NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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STAT4 |
signal transducer and activator of transcription 4 |
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ISO |
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RGD |
PMID:24242758 |
RGD:8661696 |
NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
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G |
TLR2 |
toll like receptor 2 |
disease_progression |
ISO |
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RGD |
PMID:23589575 |
RGD:15090808 |
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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G |
TNF |
tumor necrosis factor |
severity |
ISO |
DNA:polymorphisms CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:1901333 PMID:12438370 PMID:15579454 PMID:22461696 |
RGD:8548784 RGD:8548789 |
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
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ISO |
associated with human immunodeficiency virus infectious disease;protein:increased expression:vaginal fluid (human) |
RGD |
PMID:18243333 |
RGD:150523783 |
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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