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: opportunistic mycosis
Accession: DOID:2473
browse the term
Definition: A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices. (DO)
Synonyms: exact_synonym: opportunistic mycoses; opportunistic systemic mycoses
xref: ICD9CM:118
For additional species annotation, visit the
Alliance of Genome Resources .
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CCL17
C-C motif chemokine ligand 17
ISO
associated with Cystic Fibrosis
RGD
PMID:17898016
RGD:4145612
NCBI chr 6:19,345,929...19,372,972
Ensembl chr 6:19,345,941...19,348,926
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CCR1
C-C motif chemokine receptor 1
ISO
RGD
PMID:15951834
RGD:5688155
NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960
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CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:10946288
RGD:8661731
NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
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CFTR
CF transmembrane conductance regulator
ISO
DNA:mutations: :
RGD
PMID:11243954
RGD:4140482
NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
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ICAM1
intercellular adhesion molecule 1
ISO
RGD
PMID:7743671
RGD:8547590
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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IL1A
interleukin 1 alpha
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
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MBL2
mannose binding lectin 2
susceptibility
ISO
Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human) DNA:SNP:intron:1011G>A(human)
RGD
PMID:11474427 PMID:16487239
RGD:4889577 RGD:8693711
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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TLR9
toll like receptor 9
susceptibility
ISO
DNA:SNP:promoter:g.-1237T>C (rs5743836) (human)
RGD
PMID:18275280 PMID:18936185
RGD:5130858 RGD:5130863
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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TNF
tumor necrosis factor
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TNFRSF1A
TNF receptor superfamily member 1A
susceptibility
ISO
DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human)
RGD
PMID:20646338
RGD:5131174
NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
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AGER
advanced glycosylation end-product specific receptor
ISO
DNA:SNP:promoter:-374T>A (human)
RGD
PMID:22114731
RGD:8695981
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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CCL19
C-C motif chemokine ligand 19
ISO
associated with Neutropenia;mRNA:increased expression:lung
RGD
PMID:19783686
RGD:5130908
NCBI chr10:32,110,366...32,112,529
Ensembl chr10:32,110,065...32,112,734
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CCR7
C-C motif chemokine receptor 7
ISO
associated with Neutropenia
RGD
PMID:19783686
RGD:5130908
NCBI chr12:21,857,286...21,869,211
Ensembl chr12:21,857,286...21,872,475
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CD209
CD209 molecule
ISO
RGD
PMID:21381282
RGD:5131183
NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
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CFTR
CF transmembrane conductance regulator
severity
ISO
RGD
PMID:22135344
RGD:35673332
NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
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CLEC1A
C-type lectin domain family 1 member A
susceptibility
ISO
ClinVar Annotator: match by term: Aspergillosis, susceptibility to
OMIM ClinVar
PMID:29489751
NCBI chr 5:61,849,042...61,870,288
Ensembl chr 5:61,849,253...61,868,049
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CLEC7A
C-type lectin domain containing 7A
susceptibility
ISO
ClinVar Annotator: match by term: Aspergillosis, susceptibility to
ClinVar OMIM
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868
NCBI chr 5:61,832,910...61,846,441
Ensembl chr 5:61,832,954...61,846,434
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CRP
C-reactive protein, pentraxin-related
treatment
ISO
RGD
PMID:20879853
RGD:9495929
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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IL15
interleukin 15
ISO
DNA:polymorphism (human)
RGD
PMID:16893395
RGD:4981337
NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
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MBL2
mannose binding lectin 2
susceptibility
ISO
RGD
PMID:20064561
RGD:8694071
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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S100B
S100 calcium binding protein B
ISO
DNA:SNP: :427C>T (human)
RGD
PMID:22114731
RGD:8695981
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TLR1
toll like receptor 1
susceptibility
ISO
DNA:SNPs: :p.R80T, p.N248S (human)
RGD
PMID:16461792
RGD:4889535
NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466
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TLR2
toll like receptor 2
ISO
mRNA:increased expression:lung
RGD
PMID:19781388
RGD:4145322
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TLR6
toll like receptor 6
susceptibility
ISO
DNA:SNP: :p.S249P (human)
RGD
PMID:16461792
RGD:4889535
NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic | ClinVar Annotator: match by term: RELA-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28600438 PMID:29758562 PMID:32969189 PMID:35412596 PMID:36926348 More...
NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
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EPHB2
EPH receptor B2
exacerbates
ISO
RGD
PMID:33685996
RGD:127229905
NCBI chr 6:80,649,098...80,849,979
Ensembl chr 6:80,650,740...80,843,567
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PCD1B
CD1B antigen
ameliorates
ISO
associated with endotoxemia
RGD
PMID:32154791
RGD:127345119
NCBI chr 4:92,035,122...92,040,724
Ensembl chr 4:92,031,712...92,040,742
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AIRE
autoimmune regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12050215
NCBI chr13:207,148,401...207,158,355
Ensembl chr13:207,148,401...207,158,532
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CHRM2
cholinergic receptor muscarinic 2
ISO
RGD
PMID:19958780
RGD:5509581
NCBI chr18:12,455,139...12,600,314
Ensembl chr18:12,455,145...12,600,186
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IL33
interleukin 33
treatment
ISO
RGD
PMID:22661085
RGD:40400896
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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LTF
lactotransferrin
ISO
RGD
PMID:17922408
RGD:7243948
NCBI chr13:29,413,886...29,445,751
Ensembl chr13:29,413,886...29,445,739
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MAPK8
mitogen-activated protein kinase 8
ameliorates
ISO
RGD
PMID:28112734
RGD:150340684
NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,108,874
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NCR1
natural cytotoxicity triggering receptor 1
disease_progression
ISO
RGD
PMID:27736647
RGD:40818241
NCBI chr 6:59,092,258...59,099,992
Ensembl chr 6:59,092,911...59,099,990
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RIPK3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:30944411
RGD:127229913
NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
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CLEC7A
C-type lectin domain containing 7A
susceptibility
ISO
ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis
ClinVar OMIM
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 5:61,832,910...61,846,441
Ensembl chr 5:61,832,954...61,846,434
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IL17F
interleukin 17F
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 6
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29458167 PMID:30290665 PMID:32047491 PMID:32185379 PMID:34587561 PMID:35753512 PMID:35874679 More...
NCBI chr 7:46,058,371...46,066,039
Ensembl chr 7:46,059,002...46,077,048
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TRAF3IP2
TRAF3 interacting protein 2
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 8
ClinVar OMIM
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 1:77,483,997...77,541,557
Ensembl chr 1:77,487,577...77,541,198
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BRK1
BRICK1 subunit of SCAR/WAVE actin nucleating complex
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr13:66,315,438...66,324,641
Ensembl chr13:66,315,315...66,324,641
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CIDEC
cell death inducing DFFA like effector c
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr13:66,141,836...66,149,801
Ensembl chr13:66,141,839...66,149,703
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CRELD1
cysteine rich with EGF like domains 1
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:66,194,795...66,203,419
Ensembl chr13:66,194,865...66,203,412
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EMC3
ER membrane protein complex subunit 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr13:66,221,844...66,241,963
Ensembl chr13:66,217,970...66,241,935
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FANCD2
FA complementation group D2
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433
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FANCD2OS
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,309,630...66,310,166
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IL17RC
interleukin 17 receptor C
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9 | ClinVar Annotator: match by term: IL17RC-related condition
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25918342 PMID:28492532 More...
NCBI chr13:66,179,298...66,194,750
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IL17RE
interleukin 17 receptor E
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr13:66,164,492...66,177,967
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JAGN1
jagunal homolog 1
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr13:66,154,855...66,158,329
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PRRT3
proline rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr13:66,200,400...66,211,595
Ensembl chr13:66,200,797...66,211,449
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VHL
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
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CLEC7A
C-type lectin domain containing 7A
ISO
ClinVar Annotator: match by term: Candidiasis familial chronic mucocutaneous, autosomal recessive
ClinVar
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868
NCBI chr 5:61,832,910...61,846,441
Ensembl chr 5:61,832,954...61,846,434
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IL17RA
interleukin 17 receptor A
ISO
ClinVar Annotator: match by term: Familial Candidiasis, Recessive
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 5:69,461,280...69,480,343
Ensembl chr 5:69,461,290...69,480,112
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MAPK8
mitogen-activated protein kinase 8
ISO
associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human)
RGD
PMID:31784499
RGD:150340677
NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,108,874
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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 chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
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CD274
CD274 molecule
treatment
ISO
RGD
PMID:29058791
RGD:41412178
NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
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MBL2
mannose binding lectin 2
susceptibility
ISO
associated with HIV Infections;DNA:polymorphism:cds:
RGD
PMID:21592999
RGD:12910861
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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PDCD1
programmed cell death 1
treatment
ISO
RGD
PMID:29058791
RGD:41412178
NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
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BTK
Bruton tyrosine kinase
exacerbates
ISO
RGD
PMID:23820392
RGD:124715476
NCBI chr X:82,981,512...83,014,475
Ensembl chr X:82,981,515...83,014,573
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CCL2
chemokine (C-C motif) ligand 2
ISO
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:11714821
RGD:11528563
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CD40
CD40 molecule
treatment
ISO
RGD
PMID:16552046
RGD:7248435
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CD86
CD86 molecule
ISO
protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:16790753
RGD:4892554
NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
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CHIA
chitinase acidic
ISO
protein:increased expression:lung (rat)
RGD
PMID:18482441
RGD:4990459
NCBI chr 4:109,035,323...109,046,499
Ensembl chr 4:109,035,326...109,046,499
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CXCL8
C-X-C motif chemokine ligand 8
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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IL23A
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:16393998 PMID:22342846
RGD:39457936 RGD:39458042
NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
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IL33
interleukin 33
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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IL4R
interleukin 4 receptor
ISO
RGD
PMID:18954266
RGD:4890005
NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
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MARCO
macrophage receptor with collagenous structure
disease_progression
ISO
RGD
PMID:28298522
RGD:41412191
NCBI chr15:24,502,935...24,541,286
Ensembl chr15:24,503,108...24,541,283
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SFTPC
surfactant protein C
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095
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IL21
interleukin 21
ISO
protein:increased expression:CD4-positive helper T cell (mouse)
RGD
PMID:26597007
RGD:11086452
NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
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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 PMID:35727133 More...
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ENTR1
endosome associated trafficking regulator 1
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
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INPP5E
inositol polyphosphate-5-phosphatase E
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
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PMPCA
peptidase, mitochondrial processing subunit alpha
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
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SNAPC4
small nuclear RNA activating complex polypeptide 4
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
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IL21R
interleukin 21 receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency 31C
ClinVar
PMID:25741868
NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,359...19,489,152
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STAT1
signal transducer and activator of transcription 1
ISO
ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | ClinVar Annotator: match by term: Candidiasis, familial, 7 | ClinVar Annotator: match by term: Immunodeficiency 31C
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21714643 PMID:21727188 PMID:22195034 PMID:22730530 PMID:22847544 PMID:23245795 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24188975 PMID:24239102 PMID:24343863 PMID:25042743 PMID:25288569 PMID:25326637 PMID:25367169 PMID:25741868 PMID:26242301 PMID:26255980 PMID:26479788 PMID:26494717 PMID:26513235 PMID:26604104 PMID:26743090 PMID:27114460 PMID:27379765 PMID:27577878 PMID:28011069 PMID:28161409 PMID:28258222 PMID:28427548 PMID:28492532 PMID:28597685 PMID:28622416 PMID:28753426 PMID:28815025 PMID:30317461 PMID:30442829 PMID:31362757 PMID:31448411 PMID:31677808 PMID:32582194 PMID:32888943 PMID:33679782 More...
NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
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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 chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661
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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 chr14:51,403,215...51,440,036
Ensembl chr14:51,403,923...51,440,058
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ATP6V1E1
ATPase H+ transporting V1 subunit E1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:69,752,644...69,772,038
Ensembl chr 5:69,747,700...69,771,990
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BCL2L13
BCL2 like 13
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:69,779,290...69,846,638
Ensembl chr 5:69,778,950...69,855,272
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BID
BH3 interacting domain death agonist
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:69,849,007...69,874,647
Ensembl chr 5:69,849,002...69,875,853
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C14H22orf39
chromosome 14 C22orf39 homolog
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,106,984...51,112,385
Ensembl chr14:51,106,991...51,112,359
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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 chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606
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CECR2
CECR2 histone acetyl-lysine reader
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:69,621,871...69,747,730
Ensembl chr 5:69,621,959...69,740,958
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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 chr14:51,161,490...51,162,382
Ensembl chr14:51,161,042...51,163,482
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 chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
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DGCR2
DiGeorge syndrome critical region gene 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:50,881,260...50,935,603
Ensembl chr14:50,877,872...50,935,564
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ESS2
ess-2 splicing factor homolog
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:50,945,121...50,956,018
Ensembl chr14:50,945,122...50,955,983
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GNB1L
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,306,561...51,343,040
Ensembl chr14:51,305,039...51,343,029
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GP1BB
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
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GSC2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:50,956,315...50,960,424
Ensembl chr14:50,957,991...50,960,193
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HDHD5
haloacid dehalogenase like hydrolase domain containing 5
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:69,499,891...69,512,559
Ensembl chr 5:69,500,285...69,512,611
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HIRA
histone cell cycle regulator
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409
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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 chr 5:69,461,280...69,480,343
Ensembl chr 5:69,461,290...69,480,112
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LOC110256626
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 chr14:51,624,919...51,644,467
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MICAL3
microtubule associated monooxygenase, calponin and LIM domain containing 3
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:69,887,884...70,132,969
Ensembl chr 5:69,887,892...70,059,494
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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 chr14:51,102,900...51,105,769
Ensembl chr14:51,102,613...51,105,767
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PEX26
peroxisomal biogenesis factor 26
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:70,133,024...70,142,515
Ensembl chr 5:70,133,024...70,142,503
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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 chr14:51,338,134...51,342,383
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SEPTIN5
septin 5
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,252,815...51,260,851
Ensembl chr14:51,252,815...51,261,244
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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 chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...50,978,039
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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 chr14:51,443,597...51,464,370
Ensembl chr14:51,443,638...51,464,367
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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 chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
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TMEM121B
transmembrane protein 121B
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:69,484,204...69,488,489
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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 chr14:50,943,017...50,944,093
Ensembl chr14:50,943,017...50,944,093
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TUBA8
tubulin alpha 8
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:70,154,251...70,174,001
Ensembl chr 5:70,153,922...70,179,970
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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 chr14:51,355,731...51,385,096
Ensembl chr14:51,356,831...51,383,262
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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 chr14:51,113,858...51,132,820
Ensembl chr14:51,113,713...51,133,072
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USP18
ubiquitin specific peptidase 18
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:70,183,321...70,227,990
Ensembl chr 5:70,183,308...70,229,572
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AGER
advanced glycosylation end-product specific receptor
ISO
RGD
PMID:21423669
RGD:5508765
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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CCL2
chemokine (C-C motif) ligand 2
severity
ISO
RGD
PMID:11160230
RGD:11528533
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CCL20
C-C motif chemokine ligand 20
ISO
protein:increased expression:lung
RGD
PMID:20926800
RGD:7483599
NCBI chr15:129,172,743...129,176,069
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CCR6
C-C motif chemokine receptor 6
disease_progression
ISO
RGD
PMID:17379855
RGD:7483617
NCBI chr 1:2,016,600...2,034,172
Ensembl chr 1:2,018,608...2,019,821
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CXCR3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:17298426
RGD:5135501
NCBI chr X:57,592,032...57,595,706
Ensembl chr X:57,592,038...57,595,692
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CYP2C49
cytochrome P450 2C49
treatment
ISO
DNA:polymorphisms:cds:
RGD
PMID:26861072
RGD:124713410
NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455
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ELANE
elastase, neutrophil expressed
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027
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GP91-PHOX
NADPH oxidase heavy chain subunit
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chr X:33,654,656...33,678,346
Ensembl chr X:33,643,648...33,680,580
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IL17A
interleukin 17A
severity
ISO
RGD
PMID:21807912
RGD:8698654
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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MBL2
mannose binding lectin 2
ISO
DNA:SNP:exon:rs5030737(human)
RGD
PMID:17311505
RGD:8693758
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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PTX3
pentraxin 3
severity
ISO
DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527 protein:increased expression:bronchoalveolar lavage fluid (human)
RGD
PMID:28487045 PMID:30275011
RGD:38501097 RGD:38508892
NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
G
S100B
S100 calcium binding protein B
ISO
RGD
PMID:21423669
RGD:5508765
G
TLR2
toll like receptor 2
ISO
RGD
PMID:16113258
RGD:8553022
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TLR4
toll like receptor 4
susceptibility
ISO
DNA:polymorphism:exon:p.D299G(human)
RGD
PMID:18275280
RGD:5130863
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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PTX3
pentraxin 3
severity
ISO
associated with hematologic cancer;DNA:SNP:intron:rs1840680
RGD
PMID:30275011
RGD:38501097
NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
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CCL2
chemokine (C-C motif) ligand 2
treatment
ISO
RGD
PMID:12917249
RGD:11528529
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CD209
CD209 molecule
susceptibility
ISO
DNA:SNPs:3'utr,intron:multiple
RGD
PMID:22384201
RGD:39938996
NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
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FGF2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
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IL1A
interleukin 1 alpha
ISO
DNA:polymorphism, haplotype:promoter:-889C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
G
ITIH4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
protein:increased expression:respiratory system fluid/secretion, serum
RGD
PMID:24360996
RGD:40903005
NCBI chr13:34,928,455...34,948,250
Ensembl chr13:34,928,439...34,948,229
G
LOC110258578
interleukin-1 beta-like
ISO
DNA:polymorphism, haplotype: :-511C>T (human)
RGD
PMID:18484169
RGD:4142867
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MBL2
mannose binding lectin 2
treatment
ISO
RGD
PMID:17335555
RGD:8693746
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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PTX3
pentraxin 3
susceptibility no_association
ISO
protein:increased expression:bronchoalveolar lavage fluid, plasma (human) DNA:SNP:intron:rs1840680 (human) protein:increased expression:plasma DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527
RGD
PMID:29020397 PMID:29964232
RGD:38501098 RGD:38508894
NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
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VEGFA
vascular endothelial growth factor A
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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CEBPB
CCAAT enhancer binding protein beta
susceptibility
ISO
RGD
PMID:26317211
RGD:11079756
NCBI chr17:51,722,633...51,723,673
Ensembl chr17:51,722,426...51,724,305
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IL23A
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:19204111
RGD:39457957
NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
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LCN2
lipocalin 2
no_association
ISO
mRNA:increased expression:tongues:
RGD
PMID:24343647
RGD:126725083
NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644
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LTF
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chr13:29,413,886...29,445,751
Ensembl chr13:29,413,886...29,445,739
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ZC3H12A
zinc finger CCCH-type containing 12A
ISO
RGD
PMID:26320658
RGD:11534569
NCBI chr 6:93,541,334...93,551,200
Ensembl chr 6:93,541,334...93,551,193
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AZIN1
antizyme inhibitor 1
ISO
mRNA:increased expression:alveolar macrophage
RGD
PMID:19158080
RGD:14700806
NCBI chr 4:34,221,368...34,257,261
Ensembl chr 4:34,234,679...34,257,134
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C3
complement C3
ISO
RGD
PMID:17169032
RGD:5129525
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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CCL2
chemokine (C-C motif) ligand 2
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20618689
RGD:4891428
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CD40
CD40 molecule
treatment
ISO
RGD
PMID:10968950
RGD:8547797
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CSF2
colony stimulating factor 2
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:19487471
RGD:5131475
NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155
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IL23A
interleukin 23 subunit alpha
ISO
RGD
PMID:17403873
RGD:39458043
NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
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IL33
interleukin 33
treatment
ISO
RGD
PMID:21220696
RGD:40400892
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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MUC1
mucin 1, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:9617869
RGD:5131424
NCBI chr 4:94,626,317...94,631,194
G
NOS2
nitric oxide synthase 2
ISO
mRNA:increased expression:alveolar macrophage protein:decreased dimerization:alveolar macrophage
RGD
PMID:20377877 PMID:20558778
RGD:4144112 RGD:4891486
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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SFTPA1
surfactant protein A1
ISO
protein:increased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393
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SFTPB
surfactant protein B
ISO
protein:decreased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr 3:59,101,940...59,113,442
Ensembl chr 3:59,101,981...59,112,396
G
SFTPC
surfactant protein C
ISO
protein:decreased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095
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SFTPD
surfactant protein D
ISO
protein:increased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr14:82,051,400...82,069,258
Ensembl chr14:82,051,451...82,067,976
G
TLR2
toll like receptor 2
ISO
RGD
PMID:18400546
RGD:4145341
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
G
PTX3
pentraxin 3
ISO
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
RGD
PMID:29964232
RGD:38508894
NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
G
MPO
myeloperoxidase
severity
ISO
RGD
PMID:12085336
RGD:40903072
NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
G
TNF
tumor necrosis factor
ISO
mRNA, protein:increased expression:spleen, plasma
RGD
PMID:11562071
RGD:10449457
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
G
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 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
G
IDO1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:23853597
RGD:39938863
NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
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LTF
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chr13:29,413,886...29,445,751
Ensembl chr13:29,413,886...29,445,739
G
MBL2
mannose binding lectin 2
ISO
DNA:SNP:cds:
RGD
PMID:17470593
RGD:8693700
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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