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: systemic mycosis
Accession: DOID:0050136
browse the term
Definition: A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs. (DO)
GViewer not supported for the selected species.
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Ccl17
C-C motif chemokine ligand 17
ISO
associated with Cystic Fibrosis
RGD
PMID:17898016
RGD:4145612
NCBI chrNW_004955433:15,052,616...15,054,732
Ensembl chrNW_004955433:15,053,061...15,054,572
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:10946288
RGD:8661731
NCBI chrNW_004955420:25,641,184...25,664,413
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Cftr
CF transmembrane conductance regulator
ISO
DNA:mutations: :
RGD
PMID:11243954
RGD:4140482
NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382
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Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:7743671
RGD:8547590
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
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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 chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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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 chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582
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Tnf
tumor necrosis factor
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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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 chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
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Ager
advanced glycosylation end-product specific receptor
ISO
DNA:SNP:promoter:-374T>A (human)
RGD
PMID:22114731
RGD:8695981
NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
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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 chrNW_004955472:1,444,598...1,446,488
Ensembl chrNW_004955472:1,444,316...1,446,490
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Ccr7
C-C motif chemokine receptor 7
ISO
associated with Neutropenia
RGD
PMID:19783686
RGD:5130908
NCBI chrNW_004955451:15,086,119...15,101,862
Ensembl chrNW_004955451:15,086,119...15,095,561
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Cftr
CF transmembrane conductance regulator
severity
ISO
RGD
PMID:22135344
RGD:35673332
NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382
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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 chrNW_004955413:7,742,753...7,783,299
Ensembl chrNW_004955413:7,752,111...7,782,452
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Il15
interleukin 15
ISO
DNA:polymorphism (human)
RGD
PMID:16893395
RGD:4981337
NCBI chrNW_004955471:1,496,352...1,583,919
Ensembl chrNW_004955471:1,497,483...1,511,469
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Mbl2
mannose binding lectin 2
susceptibility
ISO
RGD
PMID:20064561
RGD:8694071
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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S100b
S100 calcium binding protein B
ISO
DNA:SNP: :427C>T (human)
RGD
PMID:22114731
RGD:8695981
NCBI chrNW_004955407:42,972,584...42,980,510
Ensembl chrNW_004955407:42,972,584...42,980,510
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Tlr1
toll like receptor 1
susceptibility
ISO
DNA:SNPs: :p.R80T, p.N248S (human)
RGD
PMID:16461792
RGD:4889535
NCBI chrNW_004955443:8,442,419...8,450,318
Ensembl chrNW_004955443:8,447,956...8,450,382
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Tlr2
toll like receptor 2
ISO
mRNA:increased expression:lung
RGD
PMID:19781388
RGD:4145322
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tlr6
toll like receptor 6
susceptibility
ISO
DNA:SNP: :p.S249P (human)
RGD
PMID:16461792
RGD:4889535
NCBI chrNW_004955443:8,401,461...8,427,175
Ensembl chrNW_004955443:8,422,534...8,424,942
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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 chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
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Ephb2
EPH receptor B2
exacerbates
ISO
RGD
PMID:33685996
RGD:127229905
NCBI chrNW_004955452:2,844,713...2,986,790
Ensembl chrNW_004955452:2,844,713...2,980,445
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Aire
autoimmune regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12050215
NCBI chrNW_004955407:41,157,503...41,165,032
Ensembl chrNW_004955407:41,157,484...41,165,014
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Chrm2
cholinergic receptor muscarinic 2
ISO
RGD
PMID:19958780
RGD:5509581
NCBI chrNW_004955494:5,845,581...5,975,614
Ensembl chrNW_004955494:5,847,156...5,848,556
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Il33
interleukin 33
treatment
ISO
RGD
PMID:22661085
RGD:40400896
NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948
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Ltf
lactotransferrin
ISO
RGD
PMID:17922408
RGD:7243948
NCBI chrNW_004955420:25,580,449...25,604,277
Ensembl chrNW_004955420:25,580,359...25,604,331
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Mapk8
mitogen-activated protein kinase 8
ameliorates
ISO
RGD
PMID:28112734
RGD:150340684
NCBI chrNW_004955556:1,593,552...1,705,543
Ensembl chrNW_004955556:1,593,494...1,665,784
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Ripk3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:30944411
RGD:127229913
NCBI chrNW_004955409:35,961,604...35,965,477
Ensembl chrNW_004955409:35,937,880...35,965,712
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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 chrNW_004955411:5,852,767...5,859,208
Ensembl chrNW_004955411:5,852,767...5,859,208
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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 chrNW_004955411:36,328,152...36,363,614
Ensembl chrNW_004955411:36,326,926...36,363,288
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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 chrNW_004955561:1,545,921...1,554,423
Ensembl chrNW_004955561:1,545,576...1,554,618
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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 chrNW_004955561:1,363,907...1,376,144
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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 chrNW_004955561:1,423,229...1,430,679
Ensembl chrNW_004955561:1,423,405...1,433,314
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Emc3
ER membrane protein complex subunit 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chrNW_004955561:1,442,953...1,459,988
Ensembl chrNW_004955561:1,442,953...1,459,988
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Fancd2
FA complementation group D2
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chrNW_004955561:1,460,080...1,538,026
Ensembl chrNW_004955561:1,464,869...1,538,045
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Fancd2os
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chrNW_004955561:1,538,960...1,542,130
Ensembl chrNW_004955561:1,538,960...1,542,130
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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 chrNW_004955561:1,410,100...1,423,041
Ensembl chrNW_004955561:1,410,941...1,423,023
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Il17re
interleukin 17 receptor E
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chrNW_004955561:1,397,286...1,409,999
Ensembl chrNW_004955561:1,397,287...1,409,999
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Jagn1
jagunal homolog 1
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chrNW_004955561:1,388,592...1,392,107
Ensembl chrNW_004955561:1,388,592...1,392,107
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Prrt3
proline rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chrNW_004955561:1,430,767...1,437,981
Ensembl chrNW_004955561:1,431,375...1,435,670
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511
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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 chrNW_004955454:5,230,384...5,252,769
Ensembl chrNW_004955454:5,230,522...5,254,394
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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 chrNW_004955556:1,593,552...1,705,543
Ensembl chrNW_004955556:1,593,494...1,665,784
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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 chrNW_004955403:8,156,660...8,192,018
Ensembl chrNW_004955403:8,156,660...8,194,762
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Mbl2
mannose binding lectin 2
ISO
protein:decreased secretion:serum (human)
RGD
PMID:19083122
RGD:4889458
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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Cd274
CD274 molecule
treatment
ISO
RGD
PMID:29058791
RGD:41412178
NCBI chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904
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Mbl2
mannose binding lectin 2
susceptibility
ISO
associated with HIV Infections;DNA:polymorphism:cds:
RGD
PMID:21592999
RGD:12910861
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:29058791
RGD:41412178
NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
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Btk
Bruton tyrosine kinase
exacerbates
ISO
RGD
PMID:23820392
RGD:124715476
NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120
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Cd40
CD40 molecule
treatment
ISO
RGD
PMID:16552046
RGD:7248435
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
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Cd86
CD86 molecule
ISO
protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:16790753
RGD:4892554
NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Il23a
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:16393998 PMID:22342846
RGD:39457936 RGD:39458042
NCBI chrNW_004955458:3,946,964...3,949,180
Ensembl chrNW_004955458:3,947,803...3,949,312
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Il33
interleukin 33
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948
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Il4r
interleukin 4 receptor
ISO
RGD
PMID:18954266
RGD:4890005
NCBI chrNW_004955493:5,546,340...5,580,745
Ensembl chrNW_004955493:5,545,944...5,582,422
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Marco
macrophage receptor with collagenous structure
disease_progression
ISO
RGD
PMID:28298522
RGD:41412191
NCBI chrNW_004955459:10,700,645...10,739,222
Ensembl chrNW_004955459:10,698,294...10,739,131
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Sftpc
surfactant protein C
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chrNW_004955403:45,649,149...45,651,421
Ensembl chrNW_004955403:45,649,122...45,651,837
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Il21
interleukin 21
ISO
protein:increased expression:CD4-positive helper T cell (mouse)
RGD
PMID:26597007
RGD:11086452
NCBI chrNW_004955428:18,057,096...18,065,492
Ensembl chrNW_004955428:18,057,096...18,065,492
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Cd274
CD274 molecule
treatment
ISO
RGD
PMID:23663657
RGD:40818234
NCBI chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904
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Pdcd1
programmed cell death 1
treatment
ISO
protein:increased expression:CD4 Tcell, CD8 Tcell:
RGD
PMID:23663657
RGD:40818234
NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
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Cd274
CD274 molecule
ISO
protein:increased expression:macrophage, dendritic cell, lymphocyte, splenocytes,
RGD
PMID:18268348
RGD:40822806
NCBI chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904
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Il17a
interleukin 17A
ISO
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:19469707
RGD:9068939
NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:18268348
RGD:40822806
NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
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Pdcd1lg2
programmed cell death 1 ligand 2
ISO
protein:increased expression:macrophage, dendritic cell
RGD
PMID:18268348
RGD:40822806
NCBI chrNW_004955434:9,540,047...9,559,335
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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...
NCBI chrNW_004955513:4,350,873...4,359,345
Ensembl chrNW_004955513:4,350,147...4,359,345
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Entr1
endosome associated trafficking regulator 1
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chrNW_004955513:4,322,002...4,329,479
Ensembl chrNW_004955513:4,322,871...4,330,012
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Inpp5e
inositol polyphosphate-5-phosphatase E
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chrNW_004955513:4,304,483...4,313,087
Ensembl chrNW_004955513:4,304,483...4,313,087
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Pmpca
peptidase, mitochondrial processing subunit alpha
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chrNW_004955513:4,315,159...4,322,609
Ensembl chrNW_004955513:4,315,159...4,322,609
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Snapc4
small nuclear RNA activating complex polypeptide 4
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chrNW_004955513:4,330,579...4,349,136
Ensembl chrNW_004955513:4,330,293...4,350,012
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Il21r
interleukin 21 receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency 31C
ClinVar
PMID:25741868
NCBI chrNW_004955493:5,613,704...5,646,692
Ensembl chrNW_004955493:5,613,564...5,650,583
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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 chrNW_004955403:8,156,660...8,192,018
Ensembl chrNW_004955403:8,156,660...8,194,762
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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 chrNW_004955454:5,341,822...5,355,383
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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 chrNW_004955442:18,109,421...18,149,969
Ensembl chrNW_004955442:18,109,439...18,127,971
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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 chrNW_004955454:5,669,883...5,688,623
Ensembl chrNW_004955454:5,666,921...5,688,645
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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 chrNW_004955454:5,692,027...5,770,897
Ensembl chrNW_004955454:5,715,991...5,769,443
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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 chrNW_004955454:5,776,656...5,785,500
Ensembl chrNW_004955454:5,777,667...5,783,118
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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 chrNW_004955442:18,513,398...18,548,317
Ensembl chrNW_004955442:18,514,731...18,547,805
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Cecr2
cat eye syndrome chromosome region, candidate 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955454:5,581,985...5,643,685
Ensembl chrNW_004955454:5,581,981...5,640,712
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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 chrNW_004955442:18,509,501...18,511,267
Ensembl chrNW_004955442:18,509,676...18,510,332
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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 chrNW_004955442:18,688,019...18,803,458
Ensembl chrNW_004955442:18,687,746...18,804,104
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Comt
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412
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CUNH22orf39
chromosome unknown C22orf39 homolog
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,570,867...18,575,809
Ensembl chrNW_004955442:18,570,867...18,576,076
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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 chrNW_004955442:18,857,222...18,938,552
Ensembl chrNW_004955442:18,857,222...18,938,680
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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 chrNW_004955442:18,829,037...18,840,542
Ensembl chrNW_004955442:18,828,976...18,840,542
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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 chrNW_004955442:18,224,081...18,281,558
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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 chrNW_004955442:18,359,664...18,360,979
Ensembl chrNW_004955442:18,359,664...18,360,979
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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 chrNW_004955442:18,824,187...18,825,760
Ensembl chrNW_004955442:18,823,495...18,825,760
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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 chrNW_004955454:5,284,936...5,294,969
Ensembl chrNW_004955454:5,285,365...5,301,045
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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 chrNW_004955454:5,230,384...5,252,769
Ensembl chrNW_004955454:5,230,522...5,254,394
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LOC102009660
protein HIRA
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,581,370...18,673,590
Ensembl chrNW_004955442:18,581,370...18,673,761
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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 chrNW_004955454:5,820,291...5,983,262
Ensembl chrNW_004955454:5,820,299...5,983,101
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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 chrNW_004955442:18,578,107...18,580,517
Ensembl chrNW_004955442:18,577,952...18,580,517
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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 chrNW_004955454:6,097,251...6,115,430
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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 chrNW_004955442:18,804,319...18,807,353
Ensembl chrNW_004955442:18,804,319...18,808,900
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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 chrNW_004955454:5,648,255...5,668,754
Ensembl chrNW_004955454:5,648,255...5,668,754
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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 chrNW_004955442:18,036,477...18,074,036
Ensembl chrNW_004955442:18,036,477...18,074,213
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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 chrNW_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337
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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 chrNW_004955454:5,260,179...5,268,675
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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 chrNW_004955442:18,846,491...18,847,485
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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 chrNW_004955454:6,129,821...6,148,645
Ensembl chrNW_004955454:6,129,612...6,148,645
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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 chrNW_004955442:18,150,060...18,205,775
Ensembl chrNW_004955442:18,152,152...18,204,327
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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 chrNW_004955442:18,548,545...18,568,989
Ensembl chrNW_004955442:18,548,545...18,569,366
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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 chrNW_004955454:6,171,575...6,200,879
Ensembl chrNW_004955454:6,171,569...6,203,091
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Ager
advanced glycosylation end-product specific receptor
ISO
RGD
PMID:21423669
RGD:5508765
NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:lung
RGD
PMID:20926800
RGD:7483599
NCBI chrNW_004955453:6,846,625...6,850,007
Ensembl chrNW_004955453:6,846,549...6,850,031
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Ccr6
C-C motif chemokine receptor 6
disease_progression
ISO
RGD
PMID:17379855
RGD:7483617
NCBI chrNW_004955439:14,921,524...14,949,493
Ensembl chrNW_004955439:14,920,601...14,924,191
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:17298426
RGD:5135501
NCBI chrNW_004955475:11,148,928...11,152,313
Ensembl chrNW_004955475:11,148,879...11,152,596
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Il17a
interleukin 17A
severity
ISO
RGD
PMID:21807912
RGD:8698654
NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
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LOC102012042
cytochrome b-245 heavy chain
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chrNW_004955587:781,533...818,149
Ensembl chrNW_004955587:781,388...819,912
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LOC102018844
neutrophil elastase
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chrNW_004955495:6,964,577...6,967,208
Ensembl chrNW_004955495:6,964,667...6,967,106
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Mbl2
mannose binding lectin 2
ISO
DNA:SNP:exon:rs5030737(human)
RGD
PMID:17311505
RGD:8693758
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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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 chrNW_004955448:8,366,795...8,373,010
Ensembl chrNW_004955448:8,366,925...8,372,411
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S100b
S100 calcium binding protein B
ISO
RGD
PMID:21423669
RGD:5508765
NCBI chrNW_004955407:42,972,584...42,980,510
Ensembl chrNW_004955407:42,972,584...42,980,510
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Tlr2
toll like receptor 2
ISO
RGD
PMID:16113258
RGD:8553022
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tlr4
toll like receptor 4
susceptibility
ISO
DNA:polymorphism:exon:p.D299G(human)
RGD
PMID:18275280
RGD:5130863
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Itgam
integrin subunit alpha M
ISO
protein: increased expression: kidney
RGD
PMID:21063074
RGD:7207265
NCBI chrNW_004955493:8,116,886...8,160,806
Ensembl chrNW_004955493:8,116,834...8,260,759
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Ptx3
pentraxin 3
severity
ISO
associated with hematologic cancer;DNA:SNP:intron:rs1840680
RGD
PMID:30275011
RGD:38501097
NCBI chrNW_004955448:8,366,795...8,373,010
Ensembl chrNW_004955448:8,366,925...8,372,411
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Fgf2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773
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Il1a
interleukin 1 alpha
ISO
DNA:polymorphism, haplotype:promoter:-889C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
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Il1b
interleukin 1 beta
ISO
DNA:polymorphism, haplotype: :-511C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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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 chrNW_004955430:2,772,064...2,787,912
Ensembl chrNW_004955430:2,770,373...2,789,131
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Mbl2
mannose binding lectin 2
treatment
ISO
RGD
PMID:17335555
RGD:8693746
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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Ptx3
pentraxin 3
susceptibility no_association
ISO
DNA:SNP:intron:rs1840680 (human) protein:increased expression:plasma DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527 protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
RGD
PMID:29020397 PMID:29964232
RGD:38501098 RGD:38508894
NCBI chrNW_004955448:8,366,795...8,373,010
Ensembl chrNW_004955448:8,366,925...8,372,411
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Vegfa
vascular endothelial growth factor A
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chrNW_004955437:9,527,445...9,541,908
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Cebpb
CCAAT enhancer binding protein beta
susceptibility
ISO
RGD
PMID:26317211
RGD:11079756
NCBI chrNW_004955445:8,060,432...8,061,289
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Il23a
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:19204111
RGD:39457957
NCBI chrNW_004955458:3,946,964...3,949,180
Ensembl chrNW_004955458:3,947,803...3,949,312
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Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chrNW_004955420:25,580,449...25,604,277
Ensembl chrNW_004955420:25,580,359...25,604,331
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Zc3h12a
zinc finger CCCH-type containing 12A
ISO
RGD
PMID:26320658
RGD:11534569
NCBI chrNW_004955452:15,306,398...15,314,959
Ensembl chrNW_004955452:15,305,775...15,314,959
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Cd28
CD28 molecule
ISO
RGD
PMID:20713624
RGD:5131616
NCBI chrNW_004955457:11,159,769...11,253,099
Ensembl chrNW_004955457:11,162,282...11,192,991
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Cfb
complement factor B
ISO
RGD
PMID:7921333
RGD:7421526
NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464
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Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:17003484
RGD:8547589
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse)
RGD
PMID:27992577
RGD:39939072
NCBI chrNW_004955536:2,944,770...2,955,829
Ensembl chrNW_004955536:2,943,611...2,955,829
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Il18
interleukin 18
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
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Il1b
interleukin 1 beta
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Il1rl1
interleukin 1 receptor like 1
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chrNW_004955470:7,779,828...7,849,157
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Il33
interleukin 33
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:19765107
RGD:8657058
NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:19765107
RGD:8657058
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:−308G>A(human)
RGD
PMID:17145373
RGD:7401182
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Azin1
antizyme inhibitor 1
ISO
mRNA:increased expression:alveolar macrophage
RGD
PMID:19158080
RGD:14700806
NCBI chrNW_004955417:27,231,695...27,259,564
Ensembl chrNW_004955417:27,231,696...27,259,564
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C3
complement C3
ISO
RGD
PMID:17169032
RGD:5129525
NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
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Cd40
CD40 molecule
treatment
ISO
RGD
PMID:10968950
RGD:8547797
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
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Csf2
colony stimulating factor 2
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:19487471
RGD:5131475
NCBI chrNW_004955408:3,452,009...3,454,255
Ensembl chrNW_004955408:3,451,965...3,454,312
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:17403873
RGD:39458043
NCBI chrNW_004955458:3,946,964...3,949,180
Ensembl chrNW_004955458:3,947,803...3,949,312
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Il33
interleukin 33
treatment
ISO
RGD
PMID:21220696
RGD:40400892
NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948
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Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:9617869
RGD:5131424
NCBI chrNW_004955545:1,657,728...1,662,112
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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 chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
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Sftpb
surfactant protein B
ISO
protein:decreased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chrNW_004955424:1,849,313...1,858,087
Ensembl chrNW_004955424:1,849,314...1,858,087
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Sftpc
surfactant protein C
ISO
protein:decreased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chrNW_004955403:45,649,149...45,651,421
Ensembl chrNW_004955403:45,649,122...45,651,837
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Sftpd
surfactant protein D
ISO
protein:increased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chrNW_004955510:213,468...226,096
Ensembl chrNW_004955510:213,438...225,896
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Tlr2
toll like receptor 2
ISO
RGD
PMID:18400546
RGD:4145341
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Ptx3
pentraxin 3
ISO
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
RGD
PMID:29964232
RGD:38508894
NCBI chrNW_004955448:8,366,795...8,373,010
Ensembl chrNW_004955448:8,366,925...8,372,411
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Ada
adenosine deaminase
ISO
protein:altered activity:serum,lymphocyte
RGD
PMID:22169893
RGD:152995407
NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
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Tlr4
toll like receptor 4
ISO
RGD
PMID:19740386
RGD:7794681
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Mpo
myeloperoxidase
severity
ISO
RGD
PMID:12085336
RGD:40903072
NCBI chrNW_004955451:4,743,744...4,753,358
Ensembl chrNW_004955451:4,743,744...4,753,358
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Tnf
tumor necrosis factor
ISO
mRNA, protein:increased expression:spleen, plasma
RGD
PMID:11562071
RGD:10449457
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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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 chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:23853597
RGD:39938863
NCBI chrNW_004955536:2,944,770...2,955,829
Ensembl chrNW_004955536:2,943,611...2,955,829
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Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chrNW_004955420:25,580,449...25,604,277
Ensembl chrNW_004955420:25,580,359...25,604,331
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Mbl2
mannose binding lectin 2
ISO
DNA:SNP:cds:
RGD
PMID:17470593
RGD:8693700
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all