RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: parasitic infectious disease
Accession: DOID:1398
browse the term
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
ISO
mRNA,protein:increased expression:cornea
RGD
PMID:21155840
RGD:7777095
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
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BCL2
BCL2 apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10861090
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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IL32
interleukin 32
ISO
mRNA:increased expression:zone of skin, blood serum (human)
RGD
PMID:29037857
RGD:150340744
NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929
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CD4
CD4 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9546790
NCBI chr12:6,920,587...6,951,814
Ensembl chr12:6,834,011...6,864,204
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TNFRSF8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9379333
NCBI chr 1:10,813,111...10,893,005
Ensembl chr 1:12,029,038...12,108,495
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CCL17
C-C motif chemokine ligand 17
ISO
associated with Cystic Fibrosis
RGD
PMID:17898016
RGD:4145612
NCBI chr16:37,678,518...37,689,350
Ensembl chr16:56,819,949...56,822,131
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CCR1
C-C motif chemokine receptor 1
ISO
RGD
PMID:15951834
RGD:5688155
NCBI chr 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755
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CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:10946288
RGD:8661731
NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
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CFTR
CF transmembrane conductance regulator
ISO
DNA:mutations: :
RGD
PMID:11243954
RGD:4140482
NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864
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ICAM1
intercellular adhesion molecule 1
ISO
RGD
PMID:7743671
RGD:8547590
NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
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IL1A
interleukin 1 alpha
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
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LOC100972994
HLA class II histocompatibility antigen, DQ beta 1 chain
susceptibility
ISO
associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human)
RGD
PMID:23278646
RGD:36049760
NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
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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 chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
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TNF
tumor necrosis factor
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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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 chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
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CD274
CD274 molecule
treatment
ISO
RGD
PMID:30315719
RGD:41410787
NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
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LOC100972994
HLA class II histocompatibility antigen, DQ beta 1 chain
disease_progression
ISO
DNA:polymorphism: :HLA-DQB1*02(human)
RGD
PMID:9756400
RGD:36174003
NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
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TLR2
toll like receptor 2
ISO
mRNA:increased expression:PBMC
RGD
PMID:30141853
RGD:15090814
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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IL2
interleukin 2
treatment
ISO
RGD
PMID:10862314
RGD:14928216
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
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IL23A
interleukin 23 subunit alpha
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:26809113
RGD:39458041
NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617
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LOC100972994
HLA class II histocompatibility antigen, DQ beta 1 chain
susceptibility
ISO
DNA:polymorphism, haplotype: :HLA-DQB1*04, HLA-DQB1*02
RGD
PMID:25938667
RGD:36049810
NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
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TNF
tumor necrosis factor
treatment
ISO
RGD
PMID:10862314
RGD:14928216
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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IL25
interleukin 25
ISO
protein:decreased expression:intestine
RGD
PMID:28246365
RGD:39128243
NCBI chr14:4,191,888...4,195,043
Ensembl chr14:22,286,347...22,289,498
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IL33
interleukin 33
ISO
protein:increased expression:brain:
RGD
PMID:23148283 PMID:24076431
RGD:40400713 RGD:40400715
NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
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IL5
interleukin 5
ISO
RGD
PMID:8361777
RGD:11354948
NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675
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MAG
myelin associated glycoprotein
disease_progression
ISO
RGD
PMID:20399564
RGD:27226693
NCBI chr19:32,238,457...32,260,497
Ensembl chr19:40,975,763...40,997,401
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MBP
myelin basic protein
disease_progression
ISO
RGD
PMID:20399564
RGD:27226693
NCBI chr18:70,369,882...70,526,693
Ensembl chr18:73,629,522...73,755,351
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MOBP
myelin associated oligodendrocyte basic protein
disease_progression
ISO
RGD
PMID:20399564
RGD:27226693
NCBI chr 3:39,372,102...39,450,066
Ensembl chr 3:39,688,104...39,699,486
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CD40
CD40 molecule
ISO
protein:increased expression:plasmacytoid dendritic cell
RGD
PMID:20702728
RGD:5490530
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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CCL5
C-C motif chemokine ligand 5
ISO
mRNA, protein:increased expression:blood vessel endothelial cell
RGD
PMID:15710456
RGD:2307183
NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
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CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:19741601
RGD:8661685
NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
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FOXP3
forkhead box P3
ISO
mRNA:decreased expression:placenta:
RGD
PMID:21923716
RGD:38501105
NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029
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HSPD1
heat shock protein family D (Hsp60) member 1
ISO
RGD
PMID:8881756
RGD:12910478
NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959
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IDO1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:31231617
RGD:39939039
NCBI chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352
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IL17A
interleukin 17A
ISO
mRNA,protein:increased expression:placenta:
RGD
PMID:21923716
RGD:38501105
NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
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IL21
interleukin 21
ISO
RGD
PMID:23667536
RGD:127285360
NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
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IL23A
interleukin 23 subunit alpha
ISO
RGD
PMID:15265921
RGD:39457943
NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617
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IL2RB
interleukin 2 receptor subunit beta
ameliorates
ISO
RGD
PMID:11286020
RGD:42724468
NCBI chr22:18,039,469...18,069,952
Ensembl chr22:35,874,898...35,899,038
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IL6
interleukin 6
ISO
mRNA:increased expression:placenta:
RGD
PMID:21923716
RGD:38501105
NCBI chr 7:23,415,922...23,420,767
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LDLR
low density lipoprotein receptor
ISO
RGD
PMID:18316222
RGD:5490254
NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
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NR4A2
nuclear receptor subfamily 4 group A member 2
ISO
RGD
PMID:25855987
RGD:11057198
NCBI chr2B:43,584,835...43,593,118
Ensembl chr2B:160,826,091...160,837,162
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RORC
RAR related orphan receptor C
ISO
mRNA:increased expression:placenta:
RGD
PMID:21923716
RGD:38501105
NCBI chr 1:127,164,725...127,190,479
Ensembl chr 1:130,808,705...130,834,490
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STING1
stimulator of interferon response cGAMP interactor 1
severity
ISO
RGD
PMID:31416833
RGD:39128220
NCBI chr 5:134,845,689...134,852,938
Ensembl chr 5:140,967,399...140,973,846
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AGER
advanced glycosylation end-product specific receptor
ISO
DNA:SNP:promoter:-374T>A (human)
RGD
PMID:22114731
RGD:8695981
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
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CCL19
C-C motif chemokine ligand 19
ISO
associated with Neutropenia;mRNA:increased expression:lung
RGD
PMID:19783686
RGD:5130908
NCBI chr 9:34,525,820...34,527,628
Ensembl chr 9:35,334,353...35,336,108
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CCR7
C-C motif chemokine receptor 7
ISO
associated with Neutropenia
RGD
PMID:19783686
RGD:5130908
NCBI chr17:16,720,236...16,731,955
Ensembl chr17:16,949,119...16,956,370
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CFTR
CF transmembrane conductance regulator
severity
ISO
RGD
PMID:22135344
RGD:35673332
NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864
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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
NCBI chr12:10,115,664...10,145,766
Ensembl chr12:10,359,392...10,418,806
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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
NCBI chr12:10,161,780...10,174,943
Ensembl chr12:10,410,384...10,425,452
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CRP
C-reactive protein
treatment
ISO
RGD
PMID:20879853
RGD:9495929
NCBI chr 1:135,062,102...135,064,402
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IL15
interleukin 15
ISO
DNA:polymorphism (human)
RGD
PMID:16893395
RGD:4981337
NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622
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MBL2
mannose binding lectin 2
susceptibility
ISO
RGD
PMID:20064561
RGD:8694071
NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
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S100B
S100 calcium binding protein B
ISO
DNA:SNP: :427C>T (human)
RGD
PMID:22114731
RGD:8695981
NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953
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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 4:33,119,485...33,133,541
Ensembl chr 4:38,979,006...38,981,366
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TLR2
toll like receptor 2
ISO
mRNA:increased expression:lung
RGD
PMID:19781388
RGD:4145322
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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TLR6
toll like receptor 6
susceptibility
ISO
DNA:SNP: :p.S249P (human)
RGD
PMID:16461792
RGD:4889535
NCBI chr 4:33,153,151...33,174,053
Ensembl chr 4:39,009,103...39,011,490
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PECAM1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:serum (human)
RGD
PMID:25539588
RGD:11541121
NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067
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C3
complement C3
ISO
protein:increased expression:serum
RGD
PMID:3361150
RGD:11041575
NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
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CFB
complement factor B
ISO
protein:increased expression:serum
RGD
PMID:3361150
RGD:11041575
NCBI chr 6:31,606,716...31,612,782
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CXCL10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:14507644
RGD:5135450
NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
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CXCL9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:14507644
RGD:5135450
NCBI chr 4:48,198,478...48,204,658
Ensembl chr 4:54,036,342...54,042,502
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CD1D
CD1d molecule
ameliorates
ISO
associated with endotoxemia
RGD
PMID:32154791
RGD:127345119
NCBI chr 1:133,549,258...133,557,752
Ensembl chr 1:137,341,690...137,348,173
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EPHB2
EPH receptor B2
exacerbates
ISO
RGD
PMID:33685996
RGD:127229905
NCBI chr 1:21,895,961...22,107,649
Ensembl chr 1:22,912,570...23,047,118
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AIRE
autoimmune regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12050215
NCBI chr21:30,543,018...30,556,225
Ensembl chr21:43,837,340...43,848,974
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CHRM2
cholinergic receptor muscarinic 2
ISO
RGD
PMID:19958780
RGD:5509581
NCBI chr 7:128,827,089...128,978,496
Ensembl chr 7:141,466,396...141,467,796
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IL33
interleukin 33
treatment
ISO
RGD
PMID:22661085
RGD:40400896
NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
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LTF
lactotransferrin
ISO
RGD
PMID:17922408
RGD:7243948
NCBI chr 3:46,337,738...46,367,476
Ensembl chr 3:47,442,440...47,471,532
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MAPK8
mitogen-activated protein kinase 8
ameliorates
ISO
RGD
PMID:28112734
RGD:150340684
NCBI chr10:45,806,748...45,936,362
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NCR1
natural cytotoxicity triggering receptor 1
disease_progression
ISO
RGD
PMID:27736647
RGD:40818241
NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274
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RIPK3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:30944411
RGD:127229913
NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821
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CLEC7A
C-type lectin domain containing 7A
ISO
ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis
OMIM ClinVar
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr12:10,161,780...10,174,943
Ensembl chr12:10,410,384...10,425,452
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IL17F
interleukin 17F
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...
NCBI chr 6:51,789,210...51,797,470
Ensembl chr 6:53,057,318...53,065,124
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TRAF3IP2
TRAF3 interacting protein 2
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...
NCBI chr 6:109,367,333...109,414,601
Ensembl chr 6:113,444,005...113,485,533
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BRK1
BRICK1 subunit of SCAR/WAVE actin nucleating complex
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545
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CIDEC
cell death inducing DFFA like effector c
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:9,811,995...9,836,069
Ensembl chr 3:10,048,554...10,173,107
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CRELD1
cysteine rich with EGF like domains 1
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:9,878,265...9,889,826
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EMC3
ER membrane protein complex subunit 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:9,907,446...9,932,140
Ensembl chr 3:10,256,276...10,280,626
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FANCD2
FA complementation group D2
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190
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FANCD2OS
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:10,038,805...10,043,651
Ensembl chr 3:10,392,169...10,392,702
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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...
NCBI chr 3:9,861,423...9,878,154
Ensembl chr 3:10,210,241...10,226,796
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IL17RE
interleukin 17 receptor E
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:9,846,319...9,860,735
Ensembl chr 3:10,195,209...10,208,958
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JAGN1
jagunal homolog 1
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:9,835,123...9,838,398
Ensembl chr 3:10,183,760...10,187,064
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PRRT3
proline rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:9,890,336...9,897,263
Ensembl chr 3:10,238,720...10,246,127
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VHL
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
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ACE2
angiotensin converting enzyme 2
susceptibility
ISO
DNA:SNP:intron 1: C>T
RGD
PMID:20117248
RGD:40818420
NCBI chr X:8,189,267...8,229,415
Ensembl chr X:15,470,896...15,510,891
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AQP4
aquaporin 4
disease_progression
ISO
protein:increased expression:astrocyte:
RGD
PMID:21904632
RGD:8698661
NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
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CAST
calpastatin
ISO
protein:increased express:brain
RGD
PMID:16236382
RGD:5509817
NCBI chr 5:91,972,572...92,084,657
Ensembl chr 5:97,527,071...97,636,650
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CD36
CD36 molecule
ISO
RGD
PMID:17367535
RGD:6893527
NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
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CLEC12A
C-type lectin domain family 12 member A
ameliorates
ISO
RGD
PMID:31269448
RGD:41412201
NCBI chr12:9,999,334...10,056,108
Ensembl chr12:10,248,209...10,272,070
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IL33
interleukin 33
treatment
ISO
protein:increased expression:brain
RGD
PMID:25659095 PMID:25682948
RGD:39938955 RGD:40400741
NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
G
JAK3
Janus kinase 3
ISO
RGD
PMID:22363534
RGD:11531103
NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964
G
LTA
lymphotoxin alpha
ISO
RGD
PMID:12021316
RGD:10449455
NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
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 chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977
G
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
RGD
PMID:25775137
RGD:38599200
NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614
G
PRKAA2
protein kinase AMP-activated catalytic subunit alpha 2
ISO
mRNA:decreased expression:brain (mouse)
RGD
PMID:29107705
RGD:39456137
NCBI chr 1:55,928,577...55,998,628
Ensembl chr 1:57,664,237...57,702,227
G
TNFRSF1B
TNF receptor superfamily member 1B
ISO
RGD
PMID:12228317
RGD:5131158
NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
G
NFKB1
nuclear factor kappa B subunit 1
severity
ISO
RGD
PMID:20156658
RGD:40902838
NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098
G
MUC2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:17187651
RGD:7349350
NCBI chr11:1,106,716...1,144,489
Ensembl chr11:1,143,625...1,169,741
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 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
G
IL10
interleukin 10
treatment
ISO
RGD
PMID:24055715
RGD:7364866
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
G
IL23A
interleukin 23 subunit alpha
ISO
RGD
PMID:28356392
RGD:39457935
NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617
G
MBL2
mannose binding lectin 2
severity
ISO
RGD
PMID:26745156
RGD:11076757
NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
G
PCNA
proliferating cell nuclear antigen
ISO
protein:increased expression:myocardium:
RGD
PMID:12435130
RGD:10448990
NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440
G
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
disease_progression
ISO
mRNA:increased expression:heart (mouse) mRNA:increased expression:heart (human)
RGD
PMID:29666415
RGD:38599151
NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614
G
CCL2
C-C motif chemokine ligand 2
ISO
RGD
PMID:16844401
RGD:2307145
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
G
CCL5
C-C motif chemokine ligand 5
ISO
RGD
PMID:20452453
RGD:4889906
NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
G
CHRM2
cholinergic receptor muscarinic 2
ISO
RGD
PMID:9148906
RGD:5509585
NCBI chr 7:128,827,089...128,978,496
Ensembl chr 7:141,466,396...141,467,796
G
F2
coagulation factor II, thrombin
ISO
protein:increased expression:blood plasma (human)
RGD
PMID:20699256 PMID:21866301
RGD:40818435 RGD:5147778
NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
G
HSPA4
heat shock protein family A (Hsp70) member 4
ISO
RGD
PMID:21801456
RGD:6218957
NCBI chr 5:128,463,186...128,517,563
Ensembl chr 5:134,619,076...134,673,658
G
IFNG
interferon gamma
ISO
RGD
PMID:10684988
RGD:10755744
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
G
IL23A
interleukin 23 subunit alpha
susceptibility
ISO
RGD
PMID:23182712
RGD:39457956
NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617
G
PRG2
proteoglycan 2, pro eosinophil major basic protein
ISO
mRNA:increased expression:plancenta (human)
RGD
PMID:29545200
RGD:40902989
NCBI chr11:52,628,289...52,631,634
Ensembl chr 3:160,118,111...160,122,002
G
SOAT1
sterol O-acyltransferase 1
ameliorates
ISO
DNA:SNP:exon: rs1044925 (human)
RGD
PMID:31236660
RGD:126925205
NCBI chr 1:154,776,305...154,840,594
Ensembl chr 1:158,464,886...158,524,909
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VIM
vimentin
severity
ISO
protein:increased expression:plasma
RGD
PMID:22199233
RGD:6480538
NCBI chr10:17,546,389...17,554,702
Ensembl chr10:17,818,285...17,826,642
G
IL17RA
interleukin 17 receptor A
ISO
ClinVar Annotator: match by term: Familial Candidiasis, Recessive
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr22:511,091...541,504
Ensembl chr22:15,950,463...15,974,865
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 chr10:45,806,748...45,936,362
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...
NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280
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
NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
G
FAS
Fas cell surface death receptor
ISO
mRNA, protein:increased expression:liver
RGD
PMID:18427836
RGD:2315733
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
G
FASLG
Fas ligand
ISO
mRNA, protein:increased expression:liver
RGD
PMID:18427836
RGD:2315733
NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
G
IL33
interleukin 33
ISO
protein:increased expression:serum: mRNA,protein:increased expression:liver, serum:
RGD
PMID:26944417
RGD:39939001
NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
G
TLR2
toll like receptor 2
ISO
RGD
PMID:28784165
RGD:15090810
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
G
IL2RB
interleukin 2 receptor subunit beta
exacerbates
ISO
RGD
PMID:20460838
RGD:42724464
NCBI chr22:18,039,469...18,069,952
Ensembl chr22:35,874,898...35,899,038
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CD274
CD274 molecule
treatment
ISO
RGD
PMID:29058791
RGD:41412178
NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
G
MBL2
mannose binding lectin 2
susceptibility
ISO
associated with HIV Infections;DNA:polymorphism:cds:
RGD
PMID:21592999
RGD:12910861
NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
G
PDCD1
programmed cell death 1
treatment
ISO
RGD
PMID:29058791
RGD:41412178
NCBI chr2B:129,111,509...129,121,127
G
BTK
Bruton tyrosine kinase
exacerbates
ISO
RGD
PMID:23820392
RGD:124715476
NCBI chr X:90,551,874...90,588,786
Ensembl chr X:100,684,017...100,725,187
G
CCL2
C-C motif chemokine ligand 2
ISO
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:11714821
RGD:11528563
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
G
CD40
CD40 molecule
treatment
ISO
RGD
PMID:16552046
RGD:7248435
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
G
CD86
CD86 molecule
ISO
protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:16790753
RGD:4892554
NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
G
CHIA
chitinase acidic
ISO
protein:increased expression:lung (rat)
RGD
PMID:18482441
RGD:4990459
NCBI chr 1:113,935,888...113,965,541
Ensembl chr 1:126,381,724...126,391,909
G
CXCL8
C-X-C motif chemokine ligand 8
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
G
IL23A
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:16393998 PMID:22342846
RGD:39457936 RGD:39458042
NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617
G
IL33
interleukin 33
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
G
IL4R
interleukin 4 receptor
ISO
RGD
PMID:18954266
RGD:4890005
Ensembl chr16:27,642,702...27,737,445
G
MARCO
macrophage receptor with collagenous structure
disease_progression
ISO
RGD
PMID:28298522
RGD:41412191
NCBI chr2B:5,896,433...5,940,284
Ensembl chr2B:119,475,677...119,520,385
G
SFTPC
surfactant protein C
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chr 8:21,402,060...21,409,438
Ensembl chr 8:18,345,940...18,348,764
G
MBL2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphisms, haplotype:promoter,exon:
RGD
PMID:19827946
RGD:12910843
NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
G
CAT
catalase
ISO
protein:decreased activity:erythrocyte:
RGD
PMID:9892499
RGD:9479188
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
G
CCL2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
G
CCR1
C-C motif chemokine receptor 1
ISO
RGD
PMID:12874303
RGD:5688168
NCBI chr 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755
G
CCR2
C-C motif chemokine receptor 2
ISO
mRNA:increased expression:foot, lymph node
RGD
PMID:12874303
RGD:5688168
NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
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 chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
G
CD163
CD163 molecule
ISO
mRNA, protein:increased expression:skin of body, blood plasma, CD14-positive monocyte (human)
RGD
PMID:32023254
RGD:127345130
NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
G
CD274
CD274 molecule
ISO
RGD
PMID:16358363
RGD:41410801
NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
G
COL1A1
collagen type I alpha 1 chain
ISO
DNA:SNPs: :rs1061237, rs2586488 (human)
RGD
PMID:25562121
RGD:11041176
NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
G
CXCL8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
G
FOXP3
forkhead box P3
ISO
mRNA:increased expression:Peripheral blood mononuclear cell:
RGD
PMID:29205403
RGD:38455981
NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029
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 chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
G
IL13
interleukin 13
treatment
ISO
RGD
PMID:12739821 PMID:18924210
RGD:8549536 RGD:8549561
NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
G
IL17A
interleukin 17A
ISO
mRNA:increased expression:Peripheral blood mononuclear cell:
RGD
PMID:29205403
RGD:38455981
NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
G
IL1B
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
G
IL23A
interleukin 23 subunit alpha
ISO
RGD
PMID:29078003
RGD:39457938
NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617
G
IL32
interleukin 32
susceptibility ameliorates
ISO
DNA:SNPs:enhancers: (rs4786370, rs4349147) (human)
RGD
PMID:28709468 PMID:32023240
RGD:150340717 RGD:150340742
NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929
G
IL4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
G
LTA
lymphotoxin alpha
no_association
ISO
DNA:SNP:intron:252A>G (human)
RGD
PMID:16950634
RGD:8548800
NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
G
LTB
lymphotoxin beta
ISO
RGD
PMID:17911622
RGD:8548820
NCBI chr 6:31,241,643...31,244,454
Ensembl chr 6:32,131,760...32,133,467
G
MMP2
matrix metallopeptidase 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:21091666
RGD:8657030
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
G
PDCD1LG2
programmed cell death 1 ligand 2
ISO
RGD
PMID:16358363
RGD:41410801
NCBI chr 9:5,313,071...5,391,676
Ensembl chr 9:5,514,449...5,575,688
G
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
treatment
ISO
RGD
PMID:27999013
RGD:40890273
NCBI chr 1:8,418,570...8,495,435
Ensembl chr 1:9,686,208...9,724,633
G
SLC11A1
solute carrier family 11 member 1
ISO
DNA:insertion/deletion (human)
RGD
PMID:20089160
RGD:5684930
NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941
G
SOD1
superoxide dismutase 1
ISO
protein:increased activity:erythrocyte:
RGD
PMID:9892499
RGD:9479188
NCBI chr21:18,029,831...18,037,526
G
STAT4
signal transducer and activator of transcription 4
ISO
RGD
PMID:10458767
RGD:8661703
NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
G
TLR2
toll like receptor 2
ISO
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
G
TLR4
toll like receptor 4
ISO
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
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 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
G
IL4
interleukin 4
treatment
ISO
RGD
PMID:25726962
RGD:14696685
NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
G
LOC100972994
HLA class II histocompatibility antigen, DQ beta 1 chain
ISO
DNA:polymorphisms: :HLA-DQB1*0.9, DQB1*02(human)
RGD
PMID:22308705
RGD:36174019
NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
G
TLR2
toll like receptor 2
disease_progression
ISO
mRNA:increased expression:peripheral blood monocyte: DNA:mutation:cds:Arg753Gln(human)
RGD
PMID:21923667 PMID:31437685
RGD:15090825 RGD:18182935
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
G
TLR4
toll like receptor 4
ISO
mRNA:increased expression:peripheral blood monocyte:
RGD
PMID:21923667
RGD:18182935
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
G
ABO
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
ISO
RGD
PMID:2142987
RGD:5128834
NCBI chr 9:104,354,115...104,399,057
Ensembl chr 9:132,989,574...133,010,324
G
ALB
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24270252
NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
G
IL5
interleukin 5
ISO
mRNA: increased expression: : peritoneal lavage cells
RGD
PMID:21912714
RGD:5687176
NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675
G
LOC100995326
serotransferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24270252
NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476
G
IL21
interleukin 21
ISO
protein:increased expression:CD4-positive helper T cell (mouse)
RGD
PMID:26597007
RGD:11086452
NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
G
IFNG
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16374615 PMID:29255076
RGD:14975099
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
G
IL10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16374615
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
G
IL1B
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16374615
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
G
IL2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16374615
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
G
IL5
interleukin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16374615
NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675
G
IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16374615
NCBI chr 7:23,415,922...23,420,767
G
NFKB1
nuclear factor kappa B subunit 1
severity
ISO
RGD
PMID:20086086
RGD:40902842
NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098
G
TLR4
toll like receptor 4
ISO
RGD
PMID:15910421
RGD:7241086
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
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CTSB
cathepsin B
ISO
protein:decreased activity:liver (rat)
RGD
PMID:19696938
RGD:2315504
NCBI chr 8:7,333,498...7,359,264
G
GLUD1
glutamate dehydrogenase 1
ISO
protein:increased expression:serum
RGD
PMID:10431747
RGD:6484593
NCBI chr10:83,498,338...83,540,730
G
PRG2
proteoglycan 2, pro eosinophil major basic protein
ISO
RGD
PMID:24626328
RGD:40903014
NCBI chr11:52,628,289...52,631,634
Ensembl chr 3:160,118,111...160,122,002
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CD274
CD274 molecule
ISO
mRNA, protein:increased expression:liver
RGD
PMID:25907244
RGD:41412175
NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
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IGF2
insulin like growth factor 2
ISO
protein:decreased expression:serum
RGD
PMID:12927688
RGD:5509967
NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890
G
PDCD1
programmed cell death 1
ISO
mRNA, protein:increased expression:liver
RGD
PMID:25907244
RGD:41412175
NCBI chr2B:129,111,509...129,121,127
G
KRT18
keratin 18
disease_progression
ISO
protein:increased expression:serum (mouse, human)
RGD
PMID:21357724
RGD:21406434
NCBI chr12:35,807,660...35,811,691
Ensembl chr12:36,587,149...36,591,196
G
LOC100978434
C-type lectin domain family 4 member M
ISO
RGD
PMID:18981244
RGD:39938988
NCBI chr19:7,062,961...7,069,381
G
SERPINF1
serpin family F member 1
ISO
RGD
PMID:9038736
RGD:30296660
NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
G
IL33
interleukin 33
ISO
mRNA,protein:increased expression:Bronchoalveolar lavage, epithelium, macrophage
RGD
PMID:22329990
RGD:39938827
NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
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TFF2
trefoil factor 2
ISO
RGD
PMID:22329990
RGD:39938827
NCBI chr21:28,653,077...28,657,709
Ensembl chr21:41,973,111...41,977,227
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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
NCBI chr 9:108,067,633...108,089,742
Ensembl chr 9:137,036,696...137,057,776
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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
NCBI chr 9:107,749,195...107,763,033
Ensembl chr 9:136,722,914...136,737,286
G
AJM1
apical junction component 1 homolog
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 9:107,898,222...107,908,125
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
NCBI chr 9:108,003,376...108,005,648
Ensembl chr 9:136,974,556...136,976,152
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C9H9orf163
chromosome 9 C9orf163 homolog
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 9:107,561,734...107,562,397
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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...
NCBI chr 9:107,432,709...107,446,271
Ensembl chr 9:136,416,279...136,424,756
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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
NCBI chr 9:107,853,783...107,865,565
Ensembl chr 9:136,824,266...136,835,166
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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
NCBI chr 9:108,054,934...108,057,100
Ensembl chr 9:137,023,505...137,025,361
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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
NCBI chr 9:107,786,349...107,798,873
Ensembl chr 9:136,760,243...136,769,833
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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
NCBI chr 9:107,919,200...107,923,415
Ensembl chr 9:136,889,383...136,891,133
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
NCBI chr 9:107,735,192...107,748,729
Ensembl chr 9:136,708,783...136,722,448
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
NCBI chr 9:108,108,780...108,114,806
Ensembl chr 9:137,077,207...137,083,031
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
NCBI chr 9:107,474,676...107,483,625
Ensembl chr 9:136,454,597...136,463,414
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
NCBI chr 9:107,998,949...108,003,247
Ensembl chr 9:136,969,957...136,973,945
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FUT7
fucosyltransferase 7
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 9:108,090,793...108,093,513
Ensembl chr 9:137,058,831...137,061,607
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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
NCBI chr 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731
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
NCBI chr 9:108,008,222...108,014,028
Ensembl chr 9:136,981,665...136,984,643
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
NCBI chr 9:107,818,230...107,828,652
Ensembl chr 9:136,788,329...136,794,304
G
LCN8
lipocalin 8
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 9:107,811,520...107,817,297
Ensembl chr 9:136,783,245...136,787,178
G
LCNL1
lipocalin like 1
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 9:108,043,835...108,045,585
Ensembl chr 9:137,012,430...137,013,864
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LINC02908
long intergenic non-protein coding RNA 2908
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 9:108,093,280...108,097,369
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
NCBI chr 9:107,908,156...107,917,883
Ensembl chr 9:136,878,324...136,888,065
G
MAN1B1
mannosidase alpha class 1B member 1
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 9:108,148,020...108,168,931
Ensembl chr 9:137,118,361...137,139,066
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
NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
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
NCBI chr 9:108,100,164...108,107,324
Ensembl chr 9:137,068,846...137,072,257
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
NCBI chr 9:108,052,793...108,055,298
Ensembl chr 9:137,021,230...137,022,805
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
NCBI chr 9:107,906,160...107,908,130
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
NCBI chr 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569
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
NCBI chr 9:108,037,994...108,042,136
Ensembl chr 9:137,006,601...137,009,680
G
RABL6
RAB, member RAS oncogene family like 6
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 9:107,865,764...107,898,073
Ensembl chr 9:136,849,527...136,868,545
G
SAPCD2
suppressor APC domain containing 2
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 9:108,122,658...108,132,397
G
SEC16A
SEC16 homolog A, endoplasmic reticulum export factor
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 9:107,516,556...107,560,930
Ensembl chr 9:136,493,957...136,533,655
G
SNAPC4
small nuclear RNA activating complex polypeptide 4
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 9:107,448,180...107,473,022
Ensembl chr 9:136,428,732...136,450,653
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TMEM141
transmembrane protein 141
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 9:107,849,421...107,851,438
G
TRAF2
TNF receptor associated factor 2
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 9:107,938,935...107,984,797
Ensembl chr 9:136,917,358...136,955,331
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UAP1L1
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 9:108,138,569...108,145,644
Ensembl chr 9:137,108,764...137,115,793
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IL21R
interleukin 21 receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency 31C
ClinVar
PMID:25741868
Ensembl chr16:27,774,864...27,821,769
G
STAT1
signal transducer and activator of transcription 1
ISO
ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
OMIM ClinVar
PMID:21714643 PMID:21727188 PMID:22195034 PMID:22730530 PMID:22847544 PMID:23245795 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24188975 PMID:24239102 PMID:24343863 PMID:25042743 PMID:25288569 PMID:25326637 PMID:25367169 PMID:25741868 PMID:26242301 PMID:26255980 PMID:26494717 PMID:26604104 PMID:26743090 PMID:27114460 PMID:27379765 PMID:27577878 PMID:28011069 PMID:28161409 PMID:28258222 PMID:28427548 PMID:28492532 PMID:28597685 PMID:28622416 PMID:28815025 PMID:30317461 PMID:30442829 PMID:31362757 PMID:31448411 PMID:32582194 PMID:33679782 More...
NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280
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ADA2
adenosine deaminase 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:606,220...648,902
Ensembl chr22:16,042,295...16,081,949
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ARVCF
ARVCF delta catenin family member
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,729,706...2,779,034
Ensembl chr22:18,403,239...18,449,183
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ATP6V1E1
ATPase H+ transporting V1 subunit E1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,023,028...1,059,416
Ensembl chr22:16,452,358...16,486,902
G
BCL2L13
BCL2 like 13
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,069,082...1,161,771
Ensembl chr22:16,496,222...16,590,902
G
BID
BH3 interacting domain death agonist
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,164,787...1,205,051
Ensembl chr22:16,594,186...16,632,844
G
C22H22orf39
chromosome 22 C22orf39 homolog
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,200,164...2,207,473
Ensembl chr22:17,875,330...17,882,694
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CDC45
cell division cycle 45
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,239,040...2,279,807
Ensembl chr22:17,913,729...17,955,195
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CLDN5
claudin 5
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,282,215...2,286,724
Ensembl chr22:17,958,182...17,959,093
G
CLTCL1
clathrin heavy chain like 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,934,948...2,050,159
Ensembl chr22:17,613,828...17,726,231
G
COMT
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387
G
DGCR2
DiGeorge syndrome critical region gene 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,790,899...1,876,983
Ensembl chr22:17,471,360...17,554,161
G
DGCR6
DiGeorge syndrome critical region gene 6
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,647,018...1,653,326
G
ESS2
ess-2 splicing factor homolog
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,884,790...1,899,081
Ensembl chr22:17,566,021...17,576,686
G
GNB1L
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,542,925...2,616,201
Ensembl chr22:18,222,195...18,289,580
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
NCBI chr22:2,485,350...2,486,688
G
GSC2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,901,389...1,904,671
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
NCBI chr22:565,914...586,233
Ensembl chr22:16,002,747...16,030,671
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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...
NCBI chr22:511,091...541,504
Ensembl chr22:15,950,463...15,974,865
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LOC100977781
protein HIRA
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,087,846...2,191,192
Ensembl chr22:17,765,598...17,847,084
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LOC100987322
proline dehydrogenase 1, mitochondrial
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,654,019...1,678,389
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LOC100991444
cat eye syndrome critical region protein 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:795,525...987,645
Ensembl chr22:16,335,754...16,412,640
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MICAL3
microtubule associated monooxygenase, calponin and LIM domain containing 3
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,218,210...1,454,979
Ensembl chr22:16,651,820...16,767,723
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MRPL40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,191,187...2,195,350
Ensembl chr22:17,866,322...17,870,539
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PEX26
peroxisomal biogenesis factor 26
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,507,601...1,535,859
Ensembl chr22:16,936,405...16,989,730
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RTL10
retrotransposon Gag like 10
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,607,363...2,616,113
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SLC25A1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,931,623...1,934,850
Ensembl chr22:17,609,157...17,612,463
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SLC25A18
solute carrier family 25 member 18
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:991,375...1,021,760
Ensembl chr22:16,420,689...16,451,086
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TANGO2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,779,217...2,826,445
Ensembl chr22:18,449,387...18,497,886
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TBX1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,521,080...2,541,267
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TMEM121B
transmembrane protein 121B
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:545,014...551,046
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TSSK2
testis specific serine kinase 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,885,099...1,887,139
Ensembl chr22:17,563,492...17,564,568
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TUBA8
tubulin alpha 8
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,541,154...1,561,852
Ensembl chr22:16,936,405...16,989,730
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TXNRD2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,636,703...2,704,082
Ensembl chr22:18,311,714...18,375,497
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UFD1
ubiquitin recognition factor in ER associated degradation 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,209,590...2,238,449
Ensembl chr22:17,885,073...17,913,506
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IFNG
interferon gamma
ISO
RGD
PMID:29950724
RGD:14974257
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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NFKB1
nuclear factor kappa B subunit 1
disease_progression
ISO
RGD
PMID:12370384
RGD:40902988
NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098
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NFKB2
nuclear factor kappa B subunit 2
treatment
ISO
RGD
PMID:12370384
RGD:40902988
NCBI chr10:98,997,604...99,006,407
Ensembl chr10:102,463,503...102,471,907
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AGER
advanced glycosylation end-product specific receptor
ISO
RGD
PMID:21423669
RGD:5508765
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
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CCL2
C-C motif chemokine ligand 2
severity
ISO
RGD
PMID:11160230
RGD:11528533
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
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CCL20
C-C motif chemokine ligand 20
ISO
protein:increased expression:lung
RGD
PMID:20926800
RGD:7483599
NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
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CCR6
C-C motif chemokine receptor 6
disease_progression
ISO
RGD
PMID:17379855
RGD:7483617
NCBI chr 6:165,094,563...165,109,774
Ensembl chr 6:170,069,689...170,084,779
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CXCR3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:17298426
RGD:5135501
NCBI chr X:60,880,759...60,883,355
Ensembl chr X:70,933,160...70,935,756
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CYP2C19
cytochrome P450 family 2 subfamily C member 19
treatment
ISO
DNA:polymorphisms:cds:
RGD
PMID:26861072
RGD:124713410
NCBI chr10:91,375,255...91,465,215
Ensembl chr10:94,884,472...94,970,065
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ELANE
elastase, neutrophil expressed
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chr19:276,499...280,598
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IL17A
interleukin 17A
severity
ISO
RGD
PMID:21807912
RGD:8698654
NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
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LOC100982531
cytochrome b-245 heavy chain
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chr X:30,230,394...30,267,379
Ensembl chr X:37,939,704...37,973,183
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MBL2
mannose binding lectin 2
ISO
DNA:SNP:exon:rs5030737(human)
RGD
PMID:17311505
RGD:8693758
NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
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PTX3
pentraxin 3
severity
ISO
protein:increased expression:bronchoalveolar lavage fluid (human) DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527
RGD
PMID:28487045 PMID:30275011
RGD:38501097 RGD:38508892
NCBI chr 3:154,485,470...154,492,293
Ensembl chr 3:162,537,577...162,543,652
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S100B
S100 calcium binding protein B
ISO
RGD
PMID:21423669
RGD:5508765
NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953
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TLR2
toll like receptor 2
ISO
RGD
PMID:16113258
RGD:8553022
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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TLR4
toll like receptor 4
susceptibility
ISO
DNA:polymorphism:exon:p.D299G(human)
RGD
PMID:18275280
RGD:5130863
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
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ITGAM
integrin subunit alpha M
ISO
protein: increased expression: kidney
RGD
PMID:21063074
RGD:7207265
NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406
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PTX3
pentraxin 3
severity
ISO
associated with hematologic cancer;DNA:SNP:intron:rs1840680
RGD
PMID:30275011
RGD:38501097
NCBI chr 3:154,485,470...154,492,293
Ensembl chr 3:162,537,577...162,543,652
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CCL2
C-C motif chemokine ligand 2
treatment
ISO
RGD
PMID:12917249
RGD:11528529
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
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FGF2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
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IL1A
interleukin 1 alpha
ISO
DNA:polymorphism, haplotype:promoter:-889C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
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IL1B
interleukin 1 beta
ISO
DNA:polymorphism, haplotype: :-511C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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ITIH4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
protein:increased expression:respiratory system fluid/secretion, serum
RGD
PMID:24360996
RGD:40903005
NCBI chr 3:52,754,664...52,774,867
Ensembl chr 3:53,980,668...53,998,038
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MBL2
mannose binding lectin 2
treatment
ISO
RGD
PMID:17335555
RGD:8693746
NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
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PTX3
pentraxin 3
no_association susceptibility
ISO
DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527 protein:increased expression:plasma DNA:SNP:intron:rs1840680 (human) protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
RGD
PMID:29020397 PMID:29964232
RGD:38501098 RGD:38508894
NCBI chr 3:154,485,470...154,492,293
Ensembl chr 3:162,537,577...162,543,652
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VEGFA
vascular endothelial growth factor A
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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AGER
advanced glycosylation end-product specific receptor
ISO
protein:increased expression:brain
RGD
PMID:25014011
RGD:8695986
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
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ARG1
arginase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21232540
NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162
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BTK
Bruton tyrosine kinase
susceptibility
ISO
RGD
PMID:28783468
RGD:124715477
NCBI chr X:90,551,874...90,588,786
Ensembl chr X:100,684,017...100,725,187
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C3
complement C3
ISO
RGD
PMID:15378355
RGD:7401274
NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
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CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:10899907
RGD:8661227
NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
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CCR5
C-C motif chemokine receptor 5
disease_progression
ISO
associated with HIV Infections;protein:increased expression:blood, T cell
RGD
PMID:10553079 PMID:17457607
RGD:8551832 RGD:8551841
NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
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CRP
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218153
NCBI chr 1:135,062,102...135,064,402
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DUSP1
dual specificity phosphatase 1
treatment
ISO
RGD
PMID:21471446
RGD:7771536
NCBI chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960
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DUSP6
dual specificity phosphatase 6
treatment
ISO
RGD
PMID:21471446
RGD:7771536
NCBI chr12:86,875,289...86,879,731
Ensembl chr12:90,195,482...90,200,321
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IFNG
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:2145107 PMID:16540374 PMID:17218153
RGD:7829781
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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IL10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374 PMID:20404924
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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IL18
interleukin 18
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10768930 PMID:16879623
RGD:8655909
NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
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IL2
interleukin 2
ISO
RGD
PMID:6224858
RGD:8693326
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
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IL21
interleukin 21
exacerbates
ISO
protein:increased expression:popliteal lymph node (mouse)
RGD
PMID:22429963
RGD:127285547
NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
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IL27
interleukin 27
exacerbates
ISO
RGD
PMID:25466588
RGD:126790552
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IL4
interleukin 4
treatment
ISO
protein:increased expression:serum
RGD
PMID:2145107 PMID:2521244
RGD:7829781 RGD:7829820
NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
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IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374
NCBI chr 7:23,415,922...23,420,767
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ITGB2
integrin subunit beta 2
ameliorates
ISO
RGD
PMID:14502280
RGD:127285813
NCBI chr21:31,181,228...31,216,033
Ensembl chr21:44,470,999...44,505,963
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MCL1
MCL1 apoptosis regulator, BCL2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670606
NCBI chr 1:125,918,760...125,923,952
Ensembl chr 1:129,566,827...129,572,086
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SLC6A4
solute carrier family 6 member 4
ISO
lupoid leishmaniasis;protein:increased expression:skin of body (human)
RGD
PMID:23989888
RGD:36947873
NCBI chr17:26,546,177...26,572,301
Ensembl chr17:27,050,900...27,092,882
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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TNFRSF18
TNF receptor superfamily member 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20139272
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TNFSF4
TNF superfamily member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10637281
NCBI chr 1:148,684,689...148,989,775
Ensembl chr 1:152,391,450...152,415,845
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TREM1
triggering receptor expressed on myeloid cells 1
severity
ISO
RGD
PMID:24453980
RGD:126925972
NCBI chr 6:40,861,283...40,874,446
Ensembl chr 6:42,163,337...42,183,091
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VDR
vitamin D receptor
ISO
RGD
PMID:17551101
RGD:8158083
NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
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CCL20
C-C motif chemokine ligand 20
ISO
protein:increased expression:synovial fluid
RGD
PMID:23371320
RGD:7488895
NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
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CXCR2
C-X-C motif chemokine receptor 2
severity
ISO
RGD
PMID:12847259
RGD:7257681
NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148
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NOD2
nucleotide binding oligomerization domain containing 2
ISO
RGD
PMID:21387014
RGD:5508754
NCBI chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773
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PLAUR
plasminogen activator, urokinase receptor
ISO
mRNA:increased expression:skin
RGD
PMID:19461880
RGD:6483813
NCBI chr19:40,588,100...40,616,479
Ensembl chr19:49,197,341...49,222,561 Ensembl chr19:49,197,341...49,222,561
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CCL2
C-C motif chemokine ligand 2
ISO
protein:increased expression:serum (human)
RGD
PMID:16358960
RGD:11528571
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
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CD40
CD40 molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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CD40LG
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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CXCL8
C-X-C motif chemokine ligand 8
treatment
ISO
RGD
PMID:24239846
RGD:39939054
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
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IL1B
interleukin 1 beta
ISO
RGD
PMID:23134838
RGD:7193053
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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ABCB1
ATP binding cassette subfamily B member 1
treatment susceptibility
ISO
DNA:haplotype: :1236C>T, 2677G>T,3435C>T (human) DNA:hypermethylation:promoter DNA:SNP: :c3435C>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 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
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ACE
angiotensin I converting enzyme
severity
ISO
RGD
PMID:31234939
RGD:39939120
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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ACKR1
atypical chemokine receptor 1 (Duffy blood group)
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...
NCBI chr 1:134,554,406...134,557,386
Ensembl chr 1:138,352,086...138,354,733
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AICDA
activation induced cytidine deaminase
ISO
protein:increased expression: B cell
RGD
PMID:27980783
RGD:30310233
NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
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ANK1
ankyrin 1
ISO
OMIM:609148 | OMIM:611162
MouseDO
NCBI chr 8:40,897,879...41,140,290
Ensembl chr 8:38,346,503...38,588,549
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APOE
apolipoprotein E
ISO
DNA:missense mutations:cds:p.C112R, p.C158R (human)
RGD
PMID:24116184
RGD:11039486
NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
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AQP4
aquaporin 4
ISO
OMIM:609148 | OMIM:611162
MouseDO
NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
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CBS
cystathionine beta-synthase
susceptibility
ISO
DNA:insertion:cds: (844ins68) (human)
RGD
PMID:27198213
RGD:40903062
NCBI chr21:29,361,519...29,385,610
Ensembl chr21:42,670,530...42,690,932
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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 chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
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CD1D
CD1d molecule
exacerbates ameliorates
ISO
RGD
PMID:12938235 PMID:24703850
RGD:127345117 RGD:127345121
NCBI chr 1:133,549,258...133,557,752
Ensembl chr 1:137,341,690...137,348,173
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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
NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
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CD40
CD40 molecule
severity
ISO
RGD
PMID:11485931
RGD:11352239
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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CD40LG
CD40 ligand
severity
ISO
RGD
PMID:11485931
RGD:11352239
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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CISH
cytokine inducible SH2 containing protein
susceptibility
ISO
ClinVar Annotator: match by term: Malaria, susceptibility to
OMIM ClinVar
PMID:20484391
NCBI chr 3:50,531,870...50,537,319
Ensembl chr 3:51,769,194...51,774,548
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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
NCBI chr 1:183,094,601...183,246,957
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CRP
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8730300
NCBI chr 1:135,062,102...135,064,402
G
CTLA4
cytotoxic T-lymphocyte associated protein 4
disease_progression treatment
ISO
RGD
PMID:28892065
RGD:38455986
NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
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EPHB2
EPH receptor B2
ISO
mRNA:increased expression:liver
RGD
PMID:25784101
RGD:127285023
NCBI chr 1:21,895,961...22,107,649
Ensembl chr 1:22,912,570...23,047,118
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EPHB3
EPH receptor B3
ISO
RGD
PMID:25784101
RGD:127285023
NCBI chr 3:181,604,188...181,624,744
Ensembl chr 3:190,089,522...190,104,905
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EPHB6
EPH receptor B6
ISO
RGD
PMID:25784101
RGD:127285023
NCBI chr 7:134,845,936...134,862,114
Ensembl chr 7:147,337,558...147,353,575
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FCGR2A
Fc fragment of IgG receptor IIa
susceptibility
ISO
ClinVar Annotator: match by term: Malaria, severe, susceptibility to
OMIM ClinVar
PMID:8636449 PMID:9843982 PMID:10675363 PMID:15367919 PMID:19915573 PMID:19965803 PMID:24033266 More...
NCBI chr 1:136,892,311...136,906,450
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FCGR2B
Fc fragment of IgG receptor IIb
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...
NCBI chr 1:137,074,342...137,090,962
Ensembl chr 1:140,882,043...140,890,637
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FOXP3
forkhead box P3
disease_progression
ISO
RGD
PMID:16169501 PMID:19338000
RGD:38455985 RGD:38455992
NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029
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G6PD
glucose-6-phosphate dehydrogenase
susceptibility severity
ISO
ClinVar Annotator: match by term: Malaria, susceptibility to DNA:point mutation:cds:c.968T>C (human)
OMIM ClinVar RGD
PMID:5448 PMID:16832 PMID:1303173 PMID:1459579 PMID:1551674 PMID:1562739 PMID:1631957 PMID:1805484 PMID:1924316 PMID:1945893 PMID:1953767 PMID:1972698 PMID:1978554 PMID:1978555 PMID:2253938 PMID:2263506 PMID:2321910 PMID:2393028 PMID:2503817 PMID:2572288 PMID:2633878 PMID:2836867 PMID:2849540 PMID:2912069 PMID:3198117 PMID:3338798 PMID:3393536 PMID:3446582 PMID:4283789 PMID:4359638 PMID:4379606 PMID:4388132 PMID:4392654 PMID:4435794 PMID:4721339 PMID:4837298 PMID:4974311 PMID:5081671 PMID:5305539 PMID:5369703 PMID:5485383 PMID:5641629 PMID:5673160 PMID:5770172 PMID:5844610 PMID:6015571 PMID:6698555 PMID:6714986 PMID:7203486 PMID:7327562 PMID:7390473 PMID:7440223 PMID:7577654 PMID:7590755 PMID:7789945 PMID:7803800 PMID:7806085 PMID:7825590 PMID:7947239 PMID:7947250 PMID:7949118 PMID:7959686 PMID:8118045 PMID:8193373 PMID:8244337 PMID:8370579 PMID:8447319 PMID:8471773 PMID:8490627 PMID:8537082 PMID:8611726 PMID:8807321 PMID:8860013 PMID:8956035 PMID:9017974 PMID:9192788 PMID:9233561 PMID:9250351 PMID:9342374 PMID:9589612 PMID:9858856 PMID:10221015 PMID:10502785 PMID:10643148 PMID:10734064 PMID:10782016 PMID:11024211 PMID:11146567 PMID:11243133 PMID:11400791 PMID:11445808 PMID:11499668 PMID:11601226 PMID:11793482 PMID:12028056 PMID:12064920 PMID:12105841 PMID:12367584 PMID:12497642 PMID:12737938 PMID:12768444 PMID:14014720 PMID:14278484 PMID:14505231 PMID:15223006 PMID:15315792 PMID:15349799 PMID:15502081 PMID:15625830 PMID:15727905 PMID:15766741 PMID:15906717 PMID:16088936 PMID:16119988 PMID:16136268 PMID:16143877 PMID:16155737 PMID:16329560 PMID:16356170 PMID:16513531 PMID:16528451 PMID:16607506 PMID:16777444 PMID:16927025 PMID:17587269 PMID:17726510 PMID:17959407 PMID:18046504 PMID:18226470 PMID:18270558 PMID:18329300 PMID:18452027 PMID:18568599 PMID:19589177 PMID:19594365 PMID:20007901 PMID:20200584 PMID:20203002 PMID:20236109 PMID:20602793 PMID:21446359 PMID:21479984 PMID:21507207 PMID:21637675 PMID:21677401 PMID:21874587 PMID:21931771 PMID:21989994 PMID:22018328 PMID:22164279 PMID:22165289 PMID:22171972 PMID:22293322 PMID:22307442 PMID:22452742 PMID:22552160 PMID:22770933 PMID:22906047 PMID:22906837 PMID:22963789 PMID:23006493 PMID:23144702 PMID:23479361 PMID:23926329 PMID:23965028 PMID:24033266 PMID:24134566 PMID:24460025 PMID:24551785 PMID:24586352 PMID: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...
RGD:10449115
NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674
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GYPA
glycophorin A (MNS blood group)
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 4:136,455,397...136,486,858
Ensembl chr 4:147,987,750...148,019,005 Ensembl chr 4:147,987,750...148,019,005
G
GYPB
glycophorin B (MNS blood group)
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 4:136,335,881...136,359,518
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...
NCBI chr2B:33,578,851...33,619,869
G
HMOX1
heme oxygenase 1
ISO
OMIM:609148 | OMIM:611162
MouseDO
NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
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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...
NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
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IFNG
interferon gamma
ISO
OMIM:609148 | OMIM:611162
MouseDO
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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IKBKG
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
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...
NCBI chr X:143,988,720...144,010,078
Ensembl chr X:153,854,493...153,876,092
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IL21
interleukin 21
exacerbates
ISO
RGD
PMID:25763578
RGD:127285358
NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
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IL27
interleukin 27
ameliorates
ISO
RGD
PMID:24522137 PMID:26968425
RGD:11530371 RGD:126790512
G
IL33
interleukin 33
ISO
protein:increased expression:serum:
RGD
PMID:28359899
RGD:39938859
NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
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LTBR
lymphotoxin beta receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15788153
NCBI chr12:6,514,432...6,521,966
Ensembl chr12:6,422,470...6,438,510
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MAPKAPK3
MAPK activated protein kinase 3
ISO
ClinVar Annotator: match by term: Malaria, susceptibility to
ClinVar
PMID:20484391
NCBI chr 3:50,542,547...50,574,817
Ensembl chr 3:51,779,912...51,812,124
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MKI67
marker of proliferation Ki-67
ISO
associated with Lung Neoplasms
RGD
PMID:21931708
RGD:6483517
NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555
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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
NCBI chr 6:31,249,947...31,281,613
Ensembl chr 6:32,139,981...32,171,525
G
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
NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
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PKLR
pyruvate kinase L/R
susceptibility
ISO
DNA:missense mutation:cds:p.I90N (mouse) OMIM:609148 | OMIM:611162 DNA:mutations, haplotype:multiple (human)
RGD MouseDO
PMID:14595440 PMID:20377593
RGD:11535999 RGD:11537407
NCBI chr 1:130,634,111...130,646,644
Ensembl chr 1:134,239,565...134,251,351
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PRF1
perforin 1
ISO
RGD
PMID:21525386
RGD:6482803
NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070
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PROCR
protein C receptor
disease_progression
ISO
RGD
PMID:27671831
RGD:126848795
NCBI chr20:31,500,838...31,543,928
Ensembl chr20:32,622,876...32,628,320
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SLC19A1
solute carrier family 19 member 1
ISO
DNA:SNP::g.80G>A (human)
RGD
PMID:27198213
RGD:40903062
NCBI chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752
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SLC4A1
solute carrier family 4 member 1 (Diego blood group)
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...
NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
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SPP1
secreted phosphoprotein 1
ISO
RGD
PMID:16552072
RGD:1581333
NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
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TBX21
T-box transcription factor 21
ISO
RGD
PMID:19338000
RGD:38455985
NCBI chr17:9,791,008...9,803,894
Ensembl chr17:9,973,920...9,985,660
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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
NCBI chr11:121,100,558...121,112,844
Ensembl chr11:125,018,064...125,022,309
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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...
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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TREM1
triggering receptor expressed on myeloid cells 1
severity
ISO
RGD
PMID:27671831
RGD:126848795
NCBI chr 6:40,861,283...40,874,446
Ensembl chr 6:42,163,337...42,183,091
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TSLP
thymic stromal lymphopoietin
ISO
mRNA:altered expression:multiple (mouse)
RGD
PMID:28955823
RGD:38596344
NCBI chr 5:106,440,136...106,446,849
Ensembl chr 5:112,242,490...112,250,130
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SLC4A1
solute carrier family 4 member 1 (Diego blood group)
severity
ISO
DNA:snp:promoter:g.-5699T>C (human)
RGD
PMID:16960783
RGD:10450507
NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
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TLR2
toll like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29253318
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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IFNG
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7854095
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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LTA
lymphotoxin alpha
ISO
DNA:polymorphism:intron
RGD
PMID:7595196
RGD:8548799
NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
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TNF
tumor necrosis factor
ISO
DNA:SNP:promoter:-308G>A (human)
RGD
PMID:7595196
RGD:8548799
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
ISO
protein:increased expression:liver (rat)
RGD
PMID:12621079
RGD:2306675
NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
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IL33
interleukin 33
ISO
associated with Nippostrongylus brasiliensis infection; mRNA:increased expression:lung
RGD
PMID:22331917
RGD:40400742
NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
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IL4
interleukin 4
ISO
mRNA:increased expression:spleen
RGD
PMID:17570971
RGD:2317296
NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
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MUC13
mucin 13, cell surface associated
ISO
protein:increased expression:cecum, glycocalyx
RGD
PMID:21155842
RGD:7364766
NCBI chr 3:122,032,535...122,060,974
Ensembl chr 3:128,907,662...128,934,426
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MUC17
mucin 17, cell surface associated
ISO
mRNA:increased expression:intestine
RGD
PMID:16689826
RGD:2303607
NCBI chr 7:93,178,939...93,198,279
G
MUC2
mucin 2, oligomeric mucus/gel-forming
ISO
mRNA:increased expression:intestine
RGD
PMID:16689826 PMID:20138044
RGD:2303607 RGD:7349349
NCBI chr11:1,106,716...1,144,489
Ensembl chr11:1,143,625...1,169,741
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MUC4
mucin 4, cell surface associated
ISO
mRNA:increased expression:intestine protein:increased expression:cecum, glycocalyx
RGD
PMID:16689826 PMID:21155842
RGD:2303607 RGD:7364766
NCBI chr 3:193,050,895...193,114,931
G
MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
resistance
ISO
mRNA:increased expression:cecum
RGD
PMID:20138044 PMID:22269441
RGD:7349349 RGD:7364747
NCBI chr11:1,191,223...1,234,373
G
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
susceptibility
ISO
RGD
PMID:11850627
RGD:737789
NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960
G
TNFRSF1A
TNF receptor superfamily member 1A
ISO
mRNA:increased expression:liver (rat)
RGD
PMID:20695884
RGD:5130965
NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
G
IL1R1
interleukin 1 receptor type 1
ISO
RGD
PMID:19168746
RGD:8662882
Ensembl chr2A:103,193,131...103,230,005
G
TLR4
toll like receptor 4
ISO
RGD
PMID:11884755
RGD:7794682
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
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ANXA1
annexin A1
ISO
RGD
PMID:22740770
RGD:7421536
NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779
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IL10
interleukin 10
ISO
RGD
PMID:19026704
RGD:7365028
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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IL17A
interleukin 17A
treatment
ISO
protein:increased expression:aqueous humor (human)
RGD
PMID:22927448
RGD:8698652
NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
G
IL27
interleukin 27
disease_progression
ISO
mRNA:increased expression:eye, cervical lymph node (mouse)
RGD
PMID:29779048
RGD:126790500
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 chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773
G
IL13
interleukin 13
severity
ISO
protein:increased expression:serum
RGD
PMID:22805723
RGD:8549600
NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
G
LOC100995577
HLA class II histocompatibility antigen, DP alpha 1 chain
ISO
RGD
PMID:8854084
RGD:6480649
NCBI chr 6:32,637,826...32,646,501
Ensembl chr 6:33,752,638...33,761,417
G
ACTR3
actin related protein 3
ISO
RGD
PMID:25809205
RGD:11570559
NCBI chr2B:827,184...900,424
Ensembl chr2B:114,373,392...114,445,729
G
CEBPB
CCAAT enhancer binding protein beta
susceptibility
ISO
RGD
PMID:26317211
RGD:11079756
NCBI chr20:46,533,163...46,535,282
G
IL23A
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:19204111
RGD:39457957
NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617
G
LCN2
lipocalin 2
no_association
ISO
mRNA:increased expression:tongues:
RGD
PMID:24343647
RGD:126725083
NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798
G
LTF
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chr 3:46,337,738...46,367,476
Ensembl chr 3:47,442,440...47,471,532
G
ZC3H12A
zinc finger CCCH-type containing 12A
ISO
RGD
PMID:26320658
RGD:11534569
NCBI chr 1:36,743,341...36,753,261
Ensembl chr 1:38,093,917...38,103,556
G
IL2RB
interleukin 2 receptor subunit beta
ameliorates
ISO
RGD
PMID:21301182
RGD:42724469
NCBI chr22:18,039,469...18,069,952
Ensembl chr22:35,874,898...35,899,038
G
IL33
interleukin 33
treatment
ISO
RGD
PMID:25912172
RGD:39939026
NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
G
IL5
interleukin 5
ISO
RGD
PMID:15534922
RGD:11354941
NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675
G
KMT2C
lysine methyltransferase 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043
G
KRAS
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
G
LOC100990650
guanine nucleotide-binding protein G(s) subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr20:55,190,607...55,262,245
G
PEG3
paternally expressed 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr19:53,830,193...53,860,760
Ensembl chr19:62,588,511...62,654,661
G
RNF43
ring finger protein 43
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748
G
ROBO2
roundabout guidance receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr 3:76,013,780...77,764,156
Ensembl chr 3:79,030,223...79,632,309
G
SMAD4
SMAD family member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
G
TP53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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 9:104,354,115...104,399,057
Ensembl chr 9:132,989,574...133,010,324
G
ADAMTS13
ADAM metallopeptidase with thrombospondin type 1 motif 13
ISO
protein:decreased activity:plasma (human)
RGD
PMID:20062916
RGD:10449041
NCBI chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707
G
CAST
calpastatin
ISO
protein:alter localization:erythrocyte
RGD
PMID:17359359
RGD:5509812
NCBI chr 5:91,972,572...92,084,657
Ensembl chr 5:97,527,071...97,636,650
G
CLEC11A
C-type lectin domain containing 11A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19884328
NCBI chr19:47,682,806...47,690,389
Ensembl chr19:56,586,183...56,588,580
G
CR1
complement C3b/C4b receptor 1 (Knops blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9230440 PMID:11724985
NCBI chr 1:183,094,601...183,246,957
G
CYP2C19
cytochrome P450 family 2 subfamily C member 19
treatment
ISO
DNA:polymorphisms::
RGD
PMID:10471063
RGD:124713538
NCBI chr10:91,375,255...91,465,215
Ensembl chr10:94,884,472...94,970,065
G
FAS
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625619
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
G
FCGR2A
Fc fragment of IgG receptor IIa
severity
ISO
DNA:missense mutation:cds:p.R131H (rs1801274) (human)
RGD
PMID:18194515
RGD:5147927
NCBI chr 1:136,892,311...136,906,450
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:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674
G
GSTP1
glutathione S-transferase pi 1
severity
ISO
RGD
PMID:19635899
RGD:10450848
NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
G
IL13
interleukin 13
ISO
protein:increased expression:plasma
RGD
PMID:21985368
RGD:5684362
NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
G
LOC100972994
HLA class II histocompatibility antigen, DQ beta 1 chain
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*0501 (human)
RGD
PMID:11076705
RGD:11041780
NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
G
MBL2
mannose binding lectin 2
susceptibility
ISO
DNA:haplotype:exon:
RGD
PMID:18396436
RGD:11530064
NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
G
TNF
tumor necrosis factor
severity
ISO
protein:increased expression:plasma
RGD
PMID:1984482
RGD:10450571
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
G
ACKR1
atypical chemokine receptor 1 (Duffy blood group)
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...
NCBI chr 1:134,554,406...134,557,386
Ensembl chr 1:138,352,086...138,354,733
G
AZIN1
antizyme inhibitor 1
ISO
mRNA:increased expression:alveolar macrophage
RGD
PMID:19158080
RGD:14700806
NCBI chr 8:99,483,027...99,521,151
Ensembl chr 8:101,639,950...101,678,604
G
C3
complement C3
ISO
RGD
PMID:17169032
RGD:5129525
NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
G
CCL2
C-C motif chemokine ligand 2
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20618689
RGD:4891428
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
G
CD40
CD40 molecule
treatment
ISO
RGD
PMID:10968950
RGD:8547797
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
G
CSF2
colony stimulating factor 2
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:19487471
RGD:5131475
NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146
G
IL23A
interleukin 23 subunit alpha
ISO
RGD
PMID:17403873
RGD:39458043
NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617
G
IL33
interleukin 33
treatment
ISO
RGD
PMID:21220696
RGD:40400892
NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
G
LOC100972994
HLA class II histocompatibility antigen, DQ beta 1 chain
ISO
RGD
PMID:20377877
RGD:4144112
NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
G
MUC1
mucin 1, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:9617869
RGD:5131424
NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850
G
NOS2
nitric oxide synthase 2
ISO
protein:decreased dimerization:alveolar macrophage mRNA:increased expression:alveolar macrophage
RGD
PMID:20377877 PMID:20558778
RGD:4144112 RGD:4891486
NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
G
SFTPA1
surfactant protein A1
ISO
protein:increased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr10:76,571,312...76,575,820
G
SFTPB
surfactant protein B
ISO
protein:decreased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr2A:85,708,485...85,718,120
Ensembl chr2A:87,257,244...87,268,332
G
SFTPC
surfactant protein C
ISO
protein:decreased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr 8:21,402,060...21,409,438
Ensembl chr 8:18,345,940...18,348,764
G
SFTPD
surfactant protein D
ISO
protein:increased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr10:76,275,147...76,318,952
Ensembl chr10:78,965,252...78,974,181
G
TLR2
toll like receptor 2
ISO
RGD
PMID:18400546
RGD:4145341
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
G
IL10
interleukin 10
ISO
RGD
PMID:24717969
RGD:11041890
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
G
PTX3
pentraxin 3
ISO
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
RGD
PMID:29964232
RGD:38508894
NCBI chr 3:154,485,470...154,492,293
Ensembl chr 3:162,537,577...162,543,652
G
CAT
catalase
treatment
ISO
RGD
PMID:17884035
RGD:9479747
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
G
AGER
advanced glycosylation end-product specific receptor
ISO
protein:decreased expression:lung (mouse)
RGD
PMID:23369670
RGD:7243187
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
G
BUD31
BUD31 homolog
ISO
Protein:increased expression:serum (human)
RGD
PMID:22686541
RGD:10058982
NCBI chr 7:91,382,353...91,393,112
Ensembl chr 7:104,884,088...104,894,865
G
IL33
interleukin 33
ISO
mRNA,protein:increased expression:liver
RGD
PMID:29554131
RGD:39938854
NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
G
PRDX1
peroxiredoxin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19041905
NCBI chr 1:44,813,508...44,824,430
Ensembl chr 1:46,171,453...46,182,018
G
RASSF1
Ras association domain family member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23527093
NCBI chr 3:50,255,897...50,267,042
Ensembl chr 3:51,491,548...51,502,392
G
STING1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:32404867
RGD:39128195
NCBI chr 5:134,845,689...134,852,938
Ensembl chr 5:140,967,399...140,973,846
G
TIMP3
TIMP metallopeptidase inhibitor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23527093
NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964
G
CD1D
CD1d molecule
treatment
ISO
RGD
PMID:33283278
RGD:127345110
NCBI chr 1:133,549,258...133,557,752
Ensembl chr 1:137,341,690...137,348,173
G
IL18
interleukin 18
treatment
ISO
RGD
PMID:19467215
RGD:14696662
NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
G
IL33
interleukin 33
treatment severity
ISO
protein:increased expression:serum
RGD
PMID:22590860 PMID:25944738
RGD:39939027 RGD:40400890
NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
G
PDCD1
programmed cell death 1
severity
ISO
protein:increased expression:CD4 T cell
RGD
PMID:27792733
RGD:40818413
NCBI chr2B:129,111,509...129,121,127
G
SERPINH1
serpin family H member 1
ISO
mRNA,protein:increased expression:liver, serum (mouse)
RGD
PMID:31612672
RGD:41412161
NCBI chr11:70,621,893...70,632,570
G
ALDH1A2
aldehyde dehydrogenase 1 family member A2
ISO
mRNA:increased expression:macrophage
RGD
PMID:22927819
RGD:14367882
NCBI chr15:36,925,443...37,038,288
Ensembl chr15:55,237,101...55,557,168
G
CD40
CD40 molecule
treatment
ISO
RGD
PMID:10623823
RGD:11520789
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
G
CD86
CD86 molecule
ISO
protein:increased expression:peripheral blood, eosinophil (human)
RGD
PMID:17308795
RGD:11354987
NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
G
IHH
Indian hedgehog signaling molecule
ISO
RGD
PMID:23121638
RGD:12910981
NCBI chr2B:106,312,472...106,319,124
Ensembl chr2B:224,906,271...224,911,506
G
IL13
interleukin 13
treatment
ISO
RGD
PMID:10903803
RGD:8549615
NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
G
MAP3K8
mitogen-activated protein kinase kinase kinase 8
exacerbates
ISO
RGD
PMID:27487182
RGD:151356963
NCBI chr10:30,579,220...30,607,249
Ensembl chr10:30,933,483...30,960,824
G
NOS2
nitric oxide synthase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9673227
NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
G
SOD1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16564582
NCBI chr21:18,029,831...18,037,526
G
TREM1
triggering receptor expressed on myeloid cells 1
ISO
RGD
PMID:21332515
RGD:126925988
NCBI chr 6:40,861,283...40,874,446
Ensembl chr 6:42,163,337...42,183,091
G
TSLP
thymic stromal lymphopoietin
treatment
ISO
RGD
PMID:22882457
RGD:38596354
NCBI chr 5:106,440,136...106,446,849
Ensembl chr 5:112,242,490...112,250,130
G
NOS2
nitric oxide synthase 2
ISO
protein:altered activity:brain, peritoneal macrophage
RGD
PMID:20169057
RGD:4891375
NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
G
TSLP
thymic stromal lymphopoietin
susceptibility
ISO
protein:increased expression:serum (mouse)
RGD
PMID:28769924
RGD:38549587
NCBI chr 5:106,440,136...106,446,849
Ensembl chr 5:112,242,490...112,250,130
G
AICDA
activation induced cytidine deaminase
ISO
RGD
PMID:23630966
RGD:32716404
NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
G
IL3
interleukin 3
ISO
RGD
PMID:20500666
RGD:5686890
NCBI chr 5:127,483,843...127,486,388
Ensembl chr 5:133,647,667...133,650,213
G
IL33
interleukin 33
ISO
mRNA:increased expression:lung
RGD
PMID:22331917
RGD:40400742
NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
G
PLAU
plasminogen activator, urokinase
ISO
RGD
PMID:18022622
RGD:6484141
NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136
G
IL18
interleukin 18
treatment
ISO
RGD
PMID:16129701
RGD:8655932
NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
G
IL5
interleukin 5
severity
ISO
RGD
PMID:9824515
RGD:11354934
NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675
G
IL33
interleukin 33
ISO
influenza and Pneumonia, Staphylococcal
RGD
PMID:28401938
RGD:40400699
NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
G
MPO
myeloperoxidase
severity
ISO
RGD
PMID:12085336
RGD:40903072
NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111
G
TNF
tumor necrosis factor
ISO
mRNA, protein:increased expression:spleen, plasma
RGD
PMID:11562071
RGD:10449457
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
G
IL1A
interleukin 1 alpha
ISO
RGD
PMID:7835923
RGD:7794724
NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
G
RAPGEF3
Rap guanine nucleotide exchange factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24218580
NCBI chr12:40,974,756...40,999,471
Ensembl chr12:41,848,785...41,873,252
G
CD40
CD40 molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
G
CD40LG
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
G
TSLP
thymic stromal lymphopoietin
ISO
mRNA:increased expression:multiple (mouse)
RGD
PMID:24327787
RGD:38596353
NCBI chr 5:106,440,136...106,446,849
Ensembl chr 5:112,242,490...112,250,130
G
IL4
interleukin 4
treatment
ISO
RGD
PMID:26732352
RGD:11534298
NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
G
OLIG2
oligodendrocyte transcription factor 2
ISO
RGD
PMID:25773181
RGD:40902825
NCBI chr21:19,387,860...19,391,291
G
BAX
BCL2 associated X, apoptosis regulator
ISO
RGD
PMID:24812878
RGD:10054127
NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
G
IL27
interleukin 27
susceptibility
ISO
RGD
PMID:22981537 PMID:31548322
RGD:126790501 RGD:126790522
G
NFKBIA
NFKB inhibitor alpha
exacerbates
ISO
human gene in a mouse model
RGD
PMID:12626571
RGD:126925984
NCBI chr14:16,155,331...16,158,588
G
UCP2
uncoupling protein 2
susceptibility
ISO
RGD
PMID:11101840
RGD:737759
NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185
G
IL10
interleukin 10
ISO
RGD
PMID:23465441
RGD:11049476
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
G
LTA
lymphotoxin alpha
ISO
RGD
PMID:19564380
RGD:8548805
NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
G
SLC17A8
solute carrier family 17 member 8
ISO
protein:increased expression:dorsal horn of spinal cord, dorsal root ganglion
RGD
PMID:22160634
RGD:9999169
NCBI chr12:97,935,177...98,001,240
Ensembl chr12:101,342,113...101,405,844
G
SLC6A4
solute carrier family 6 member 4
ISO
protein:decreased expression:jejunum (mouse)
RGD
PMID:16336502
RGD:38676482
NCBI chr17:26,546,177...26,572,301
Ensembl chr17:27,050,900...27,092,882
G
TNF
tumor necrosis factor
ISO
RGD
PMID:19564380
RGD:8548805
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
G
TSLP
thymic stromal lymphopoietin
disease_progression
ISO
RGD
PMID:23024277
RGD:38596337
NCBI chr 5:106,440,136...106,446,849
Ensembl chr 5:112,242,490...112,250,130
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FOXP1
forkhead box P1
ISO
mRNA:increased expression:duodenum (rat)
RGD
PMID:21698235
RGD:11561920
NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173
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IFNG
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20864659
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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MPO
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20864659
NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111
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TSLP
thymic stromal lymphopoietin
susceptibility
ISO
RGD
PMID:19273626
RGD:38549593
NCBI chr 5:106,440,136...106,446,849
Ensembl chr 5:112,242,490...112,250,130
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ADA
adenosine deaminase
ISO
RGD
PMID:20809996
RGD:5128861
NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
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BCHE
butyrylcholinesterase
ISO
protein:decreased expression:plasma
RGD
PMID:20138875
RGD:5687328
NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481
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CD1D
CD1d molecule
exacerbates
ISO
RGD
PMID:15731095
RGD:127345115
NCBI chr 1:133,549,258...133,557,752
Ensembl chr 1:137,341,690...137,348,173
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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 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
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IL4
interleukin 4
treatment
ISO
RGD
PMID:24731531
RGD:10402804
NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
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PRF1
perforin 1
ISO
RGD
PMID:19651871
RGD:6482814
NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070
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CD1D
CD1d molecule
ISO
protein:increased expression:B cell (human)
RGD
PMID:22347409
RGD:127345101
NCBI chr 1:133,549,258...133,557,752
Ensembl chr 1:137,341,690...137,348,173
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CTLA4
cytotoxic T-lymphocyte associated protein 4
susceptibility
ISO
DNA:SNPs:multiple:Gabonese(human)
RGD
PMID:22288822
RGD:7204674
NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
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IL5
interleukin 5
resistance
ISO
RGD
PMID:9697734
RGD:7241010
NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675
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AICDA
activation induced cytidine deaminase
ISO
RGD
PMID:31001826
RGD:32716386
NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
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CCR2
C-C motif chemokine receptor 2
ISO
associated with Malnutrition;mRNA:increased expression:lymph node,spleen:
RGD
PMID:24818662
RGD:8661728
NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
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CCR3
C-C motif chemokine receptor 3
ISO
protein:increased expression:blood, T cell
RGD
PMID:15379987
RGD:6893393
NCBI chr 3:46,147,928...46,172,947
Ensembl chr 3:47,253,878...47,278,630
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CCR5
C-C motif chemokine receptor 5
treatment
ISO
RGD
PMID:24617012
RGD:14401738
NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
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CD163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:28355218
RGD:127345133
NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
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CD40
CD40 molecule
treatment
ISO
RGD
PMID:14573667
RGD:8547750
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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CD40LG
CD40 ligand
ISO
RGD
PMID:14573667
RGD:8547750
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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CRP
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10467834
NCBI chr 1:135,062,102...135,064,402
G
CSF2
colony stimulating factor 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:8035028 PMID:17404324
RGD:10449527
NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146
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CXCL10
C-X-C motif chemokine ligand 10
ISO
mRNA:increased expression:liver
RGD
PMID:16239557
RGD:27095947
NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
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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 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
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HMOX1
heme oxygenase 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22461696 PMID:23729024
RGD:42724459
NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
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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 chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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IL10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15716043 PMID:17404324 PMID:22461696 PMID:29745990
RGD:14975172
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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IL10RA
interleukin 10 receptor subunit alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15716043
NCBI chr11:112,820,445...112,835,603
Ensembl chr11:116,752,619...116,767,771
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IL18
interleukin 18
susceptibility
ISO
RGD
PMID:16879623
RGD:8655922
NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
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IL1B
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17404324
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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IL27
interleukin 27
ISO
mRNA, protein:increased expression:spleen, liver (mouse)
RGD
PMID:27245409
RGD:126790520
G
IL2RB
interleukin 2 receptor subunit beta
susceptibility
ISO
DNA:polymorphisms:exon:8777, 8838(human)
RGD
PMID:17108990
RGD:42724466
NCBI chr22:18,039,469...18,069,952
Ensembl chr22:35,874,898...35,899,038
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IL32
interleukin 32
ameliorates
ISO
human gene in a mouse model
RGD
PMID:29483288
RGD:150340719
NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929
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IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7554475 PMID:17404324 PMID:22461696
NCBI chr 7:23,415,922...23,420,767
G
IRF5
interferon regulatory factor 5
ISO
protein:increased expression:CD4 T cell, nucleus
RGD
PMID:30067973 PMID:32038622
RGD:40924560 RGD:40924629
NCBI chr 7:120,889,752...120,902,096
Ensembl chr 7:133,415,170...133,426,356
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LTA
lymphotoxin alpha
severity
ISO
DNA:polymorphisms
RGD
PMID:12438370 PMID:15579454
RGD:8548784 RGD:8548789
NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
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LTB
lymphotoxin beta
ISO
RGD
PMID:12115620
RGD:8548822
NCBI chr 6:31,241,643...31,244,454
Ensembl chr 6:32,131,760...32,133,467
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MBL2
mannose binding lectin 2
disease_progression susceptibility
ISO
DNA:polymorphism:promoter: DNA:SNPs,haplotype:promoter,exon: protein:increased expression:serum:
RGD
PMID:17357060 PMID:22995279 PMID:26297290
RGD:11522692 RGD:8693721 RGD:8693726
NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
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NFE2L2
NFE2 like bZIP transcription factor 2
treatment
ISO
RGD
PMID:23729024
RGD:42724459
NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
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PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
treatment
ISO
RGD
PMID:27999013
RGD:40890273
NCBI chr 1:8,418,570...8,495,435
Ensembl chr 1:9,686,208...9,724,633
G
SLC11A1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16597321 PMID:17067929
RGD:5684944
NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941
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STAT4
signal transducer and activator of transcription 4
ISO
RGD
PMID:24242758
RGD:8661696
NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
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TLR2
toll like receptor 2
disease_progression
ISO
RGD
PMID:23589575
RGD:15090808
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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TNF
tumor necrosis factor
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 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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CXCL8
C-X-C motif chemokine ligand 8
ISO
associated with human immunodeficiency virus infectious disease;protein:increased expression:vaginal fluid (human)
RGD
PMID:18243333
RGD:150523783
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
G
IDO1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:23853597
RGD:39938863
NCBI chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352
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LTF
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chr 3:46,337,738...46,367,476
Ensembl chr 3:47,442,440...47,471,532
G
MBL2
mannose binding lectin 2
ISO
DNA:SNP:cds:
RGD
PMID:17470593
RGD:8693700
NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
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