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: fungal infectious disease
Accession: DOID:1564
browse the term
Definition: A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body. (DO)
Synonyms: exact_synonym: Fungal Disease; Fungal Infection; Fungus Disease; Fungus Diseases; Fungus Infection; fungal diseases; fungal infections; fungus infections; mycoses; mycosis
primary_id: MESH:D009181
xref: ICD10CM:B49 ; ICD9CM:110-118.99 ; NCI:C3245
For additional species annotation, visit the
Alliance of Genome Resources .
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:sinus:
RGD
PMID:22287435
RGD:7483612
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl20
C-C motif chemokine ligand 20
ISO
associated with Rhinosinusitis
RGD
PMID:22287435
RGD:7483612
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:22287435
RGD:7483612
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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Ccr6
C-C motif chemokine receptor 6
ISO
associated with Rhinosinusitis
RGD
PMID:22287435
RGD:7483612
NCBI chr17:8,454,875...8,477,353
Ensembl chr17:8,454,875...8,475,973
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Mbl2
mannose-binding lectin (protein C) 2
treatment
ISO
associated with Hematologic Diseases;DNA:polymorphisms:promoter,exon:
RGD
PMID:24886325
RGD:11530048
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Ccl17
C-C motif chemokine ligand 17
ISO
associated with Cystic Fibrosis
RGD
PMID:17898016
RGD:4145612
NCBI chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664
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Ccr1
C-C motif chemokine receptor 1
IMP
RGD
PMID:15951834
RGD:5688155
NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
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Ccr2
C-C motif chemokine receptor 2
IMP
RGD
PMID:10946288
RGD:8661731
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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Cftr
cystic fibrosis transmembrane conductance regulator
ISO
DNA:mutations: :
RGD
PMID:11243954
RGD:4140482
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human)
RGD
PMID:23278646
RGD:36049760
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
associated with cystic fibrosis; DNA:polymorphisms: :
RGD
PMID:23278646
RGD:36049760
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Icam1
intercellular adhesion molecule 1
IEP
RGD
PMID:7743671
RGD:8547590
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Il1a
interleukin 1 alpha
IEP
RGD
PMID:8699818
RGD:7794730
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Mbl2
mannose-binding lectin (protein C) 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 chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Tlr9
toll-like receptor 9
susceptibility
ISO IMP
DNA:SNP:promoter:g.-1237T>C rs5743836 (human)
RGD
PMID:18275280 PMID:18936185
RGD:5130863 , RGD:5130858
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Tnf
tumor necrosis factor
IEP
RGD
PMID:8699818
RGD:7794730
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf1a
tumor necrosis factor 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 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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Ager
advanced glycosylation end product-specific receptor
ISO
DNA:SNP:promoter:-374T>A (human)
RGD
PMID:22114731
RGD:8695981
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Ccl19
C-C motif chemokine ligand 19
IEP
associated with Neutropenia;mRNA:increased expression:lung
RGD
PMID:19783686
RGD:5130908
NCBI chr 4:42,754,525...42,756,558
Ensembl chr 4:42,754,525...42,756,577
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Ccr7
C-C motif chemokine receptor 7
IMP
associated with Neutropenia
RGD
PMID:19783686
RGD:5130908
NCBI chr11:99,035,025...99,045,903
Ensembl chr11:99,035,022...99,045,903
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Cd209d
CD209d antigen
ISO
RGD
PMID:21381282
RGD:5131183
NCBI chr 8:3,921,824...3,928,548
Ensembl chr 8:3,921,824...3,928,555
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Cftr
cystic fibrosis transmembrane conductance regulator
severity
IMP
RGD
PMID:22135344
RGD:35673332
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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Clec1a
C-type lectin domain family 1, member a
susceptibility
ISO
ClinVar Annotator: match by term: Aspergillosis, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:29489751
NCBI chr 6:129,403,647...129,428,963
Ensembl chr 6:129,401,735...129,428,963
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Clec7a
C-type lectin domain family 7, member a
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CLEC7A-related condition
CTD OMIM ClinVar
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 6:129,438,554...129,449,748
Ensembl chr 6:129,438,554...129,449,742
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Crp
C-reactive protein, pentraxin-related
treatment
ISO
RGD
PMID:20879853
RGD:9495929
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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Il15
interleukin 15
ISO
DNA:polymorphism (human)
RGD
PMID:16893395
RGD:4981337
NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
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Mbl1
mannose-binding lectin (protein A) 1
susceptibility
IMP
RGD
PMID:20064561
RGD:8694071
NCBI chr14:40,873,413...40,885,861
Ensembl chr14:40,873,415...40,881,558
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Mbl2
mannose-binding lectin (protein C) 2
susceptibility
IMP
RGD
PMID:20064561
RGD:8694071
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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S100b
S100 protein, beta polypeptide, neural
ISO
DNA:SNP: :427C>T (human)
RGD
PMID:22114731
RGD:8695981
NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
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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 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906
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Tlr2
toll-like receptor 2
IEP
mRNA:increased expression:lung
RGD
PMID:19781388
RGD:4145322
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr6
toll-like receptor 6
susceptibility
ISO
DNA:SNP: :p.S249P (human)
RGD
PMID:16461792
RGD:4889535
NCBI chr 5:65,109,373...65,128,387
Ensembl chr 5:65,109,374...65,117,440
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Rela
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
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 chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
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Sipa1
signal-induced proliferation associated gene 1
ISO
ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic
ClinVar
PMID:25741868 PMID:28492532 PMID:28600438 PMID:36926348
NCBI chr19:5,701,211...5,713,758
Ensembl chr19:5,701,213...5,713,735
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Cd1d1
CD1d1 antigen
ameliorates
IMP
associated with endotoxemia
RGD
PMID:32154791
RGD:127345119
NCBI chr 3:86,903,141...86,919,665
Ensembl chr 3:86,903,141...86,906,748
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Ephb2
Eph receptor B2
exacerbates
IMP
RGD
PMID:33685996
RGD:127229905
NCBI chr 4:136,374,850...136,563,637
Ensembl chr 4:136,374,850...136,563,299
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Aire
autoimmune regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12050215
NCBI chr10:77,865,856...77,879,444
Ensembl chr10:77,865,856...77,879,444
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Chrm2
cholinergic receptor, muscarinic 2, cardiac
IMP
RGD
PMID:19958780
RGD:5509581
NCBI chr 6:36,364,928...36,505,573
Ensembl chr 6:36,365,019...36,505,349
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Il33
interleukin 33
treatment
ISO
RGD
PMID:22661085
RGD:40400896
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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Ltf
lactotransferrin
ISO
RGD
PMID:17922408
RGD:7243948
NCBI chr 9:110,848,360...110,871,834
Ensembl chr 9:110,848,339...110,871,835
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Mapk8
mitogen-activated protein kinase 8
ameliorates
IMP
RGD
PMID:28112734
RGD:150340684
NCBI chr14:33,099,855...33,169,213
Ensembl chr14:33,099,855...33,169,115
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Ncr1
natural cytotoxicity triggering receptor 1
disease_progression
IMP
RGD
PMID:27736647
RGD:40818241
NCBI chr 7:4,340,714...4,348,183
Ensembl chr 7:4,340,723...4,348,163
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Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
IMP
RGD
PMID:30944411
RGD:127229913
NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322
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Clec7a
C-type lectin domain family 7, member a
susceptibility
ISO
ClinVar Annotator: match by term: CLEC7A-related condition | ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 6:129,438,554...129,449,748
Ensembl chr 6:129,438,554...129,449,742
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Il17f
interleukin 17F
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 6 | ClinVar Annotator: match by term: IL17F-related condition
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 1:20,847,370...20,855,498
Ensembl chr 1:20,847,370...20,860,841
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E130307A14Rik
RIKEN cDNA E130307A14 gene
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 8 | ClinVar Annotator: match by term: TRAF3IP2-related condition
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20953186 PMID:20953188 PMID:22513239 PMID:22581863 PMID:24033266 PMID:24120361 PMID:25741868 PMID:28492532 PMID:31292894 More...
NCBI chr10:39,497,407...39,608,003
Ensembl chr10:39,497,408...39,608,683
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Traf3ip2
TRAF3 interacting protein 2
susceptibility
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 8 | ClinVar Annotator: match by term: TRAF3IP2-related condition
ClinVar OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20953186 PMID:20953188 PMID:22513239 PMID:22581863 PMID:24033266 PMID:24120361 PMID:25741868 PMID:28492532 PMID:31292894 More...
NCBI chr10:39,488,930...39,531,303
Ensembl chr10:39,488,930...39,531,303
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Brk1
BRICK1, SCAR/WAVE actin-nucleating complex subunit
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912
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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 6:113,401,595...113,412,721
Ensembl chr 6:113,401,595...113,412,721
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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 6:113,460,317...113,470,304
Ensembl chr 6:113,460,258...113,470,304
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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 6:113,491,848...113,508,599
Ensembl chr 6:113,491,835...113,508,613
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Fancd2
Fanconi anemia, complementation group D2
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978
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Fancd2os
Fancd2 opposite strand
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676
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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 PMID:37395078 More...
NCBI chr 6:113,448,416...113,460,124
Ensembl chr 6:113,448,388...113,460,101
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Il17re
interleukin 17 receptor E
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 6:113,435,659...113,447,719
Ensembl chr 6:113,435,445...113,447,719
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Jagn1
jagunal homolog 1
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 6:113,419,478...113,425,190
Ensembl chr 6:113,419,530...113,425,190
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Prrt3
proline-rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 6:113,470,599...113,479,071
Ensembl chr 6:113,470,600...113,478,892
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594
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Ifng
interferon gamma
treatment
IDA
RGD
PMID:29481557
RGD:14975102
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Clec7a
C-type lectin domain family 7, member a
ISO
ClinVar Annotator: match by term: Candidiasis familial chronic mucocutaneous, autosomal recessive
ClinVar
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868
NCBI chr 6:129,438,554...129,449,748
Ensembl chr 6:129,438,554...129,449,742
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Il17ra
interleukin 17 receptor A
ISO
ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis | ClinVar Annotator: match by term: Familial Candidiasis, Recessive
ClinVar
PMID:16670328 PMID:18802100 PMID:21178015 PMID:21350122 PMID:24033266 PMID:25741868 PMID:27930337 PMID:28492532 More...
NCBI chr 6:120,440,143...120,460,692
Ensembl chr 6:120,440,208...120,464,520
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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 chr14:33,099,855...33,169,213
Ensembl chr14:33,099,855...33,169,115
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Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis
CTD ClinVar
PMID:21714643 PMID:21727188 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24343863 PMID:25741868 PMID:26255980 PMID:26494717 PMID:26604104 PMID:28161409 PMID:28427548 PMID:28492532 PMID:28815025 More...
NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
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Acyp2
acylphosphatase 2, muscle type
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr11:30,455,991...30,599,778
Ensembl chr11:30,455,991...30,599,587
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Il1r1
interleukin 1 receptor, type I
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:40,261,651...40,355,361
Ensembl chr 1:40,264,240...40,356,417
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LOC110806267
Tert 5' regulatory region
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
PMID:16890917
NCBI chr13:73,770,663...73,775,510
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Mlkl
mixed lineage kinase domain-like
ISO
ClinVar Annotator: match by term: Chronic multifocal osteomyelitis
ClinVar
NCBI chr 8:112,037,879...112,065,081
Ensembl chr 8:112,038,429...112,064,809
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Mynn
myoneurin
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr 3:30,656,212...30,674,022
Ensembl chr 3:30,656,214...30,674,022
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Pstpip2
proline-serine-threonine phosphatase-interacting protein 2
IAGP
OMIM:259680
MouseDO
NCBI chr18:77,882,250...77,971,462
Ensembl chr18:77,877,614...77,970,579
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Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
PMID:16890917 PMID:25741868 PMID:28492532
NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
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Zbtb46
zinc finger and BTB domain containing 46
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr 2:181,012,105...181,134,776
Ensembl chr 2:181,029,555...181,101,219
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Il1f10
interleukin 1 family, member 10
ISO
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
ClinVar
PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 PMID:28492532 More...
NCBI chr 2:24,177,095...24,184,236
Ensembl chr 2:24,181,208...24,183,832
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Il1rn
interleukin 1 receptor antagonist
ISO
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
OMIM ClinVar
PMID:9536098 PMID:12837270 PMID:16199547 PMID:16519819 PMID:17576681 PMID:19280228 PMID:19494218 PMID:19494219 PMID:19729864 PMID:20213597 PMID:20842532 PMID:21279638 PMID:21792839 PMID:22032624 PMID:22127713 PMID:22940634 PMID:23698098 PMID:24033266 PMID:24863340 PMID:25501066 PMID:25741868 PMID:26100510 PMID:28236224 PMID:28492532 PMID:32819369 More...
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il36rn
interleukin 36 receptor antagonist
ISO
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
ClinVar
PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 PMID:28492532 More...
NCBI chr 2:24,166,966...24,172,444
Ensembl chr 2:24,166,966...24,173,438
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Nfkbia
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha
ISO
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
ClinVar
NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432
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Il1r1
interleukin 1 receptor, type I
ISO
ClinVar Annotator: match by term: Chronic recurrent multifocal osteomyelitis 3
OMIM ClinVar
NCBI chr 1:40,261,651...40,355,361
Ensembl chr 1:40,264,240...40,356,417
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Mbl2
mannose-binding lectin (protein C) 2
ISO
protein:decreased secretion:serum (human)
RGD
PMID:19083122
RGD:4889458
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Cd274
CD274 antigen
treatment
ISO
RGD
PMID:29058791
RGD:41412178
NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
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Mbl2
mannose-binding lectin (protein C) 2
susceptibility
ISO
associated with HIV Infections;DNA:polymorphism:cds:
RGD
PMID:21592999
RGD:12910861
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Pdcd1
programmed cell death 1
treatment
ISO IMP
RGD
PMID:29058791 PMID:29058791
RGD:41412178 , RGD:41412178
NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
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Btk
Bruton agammaglobulinemia tyrosine kinase
exacerbates
IMP
RGD
PMID:23820392
RGD:124715476
NCBI chr X:133,443,083...133,484,366
Ensembl chr X:133,443,085...133,484,319
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Ccl2
C-C motif chemokine ligand 2
IEP
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:11714821
RGD:11528563
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Cd40
CD40 antigen
treatment
IMP
RGD
PMID:16552046
RGD:7248435
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd86
CD86 antigen
IEP
protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:16790753
RGD:4892554
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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Chia1
chitinase, acidic 1
ISO
protein:increased expression:lung (rat)
RGD
PMID:18482441
RGD:4990459
NCBI chr 3:106,020,698...106,039,434
Ensembl chr 3:106,020,545...106,039,436
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Cxcl15
C-X-C motif chemokine ligand 15
IEP
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Il23a
interleukin 23, alpha subunit p19
severity
IMP
RGD
PMID:16393998 PMID:22342846
RGD:39457936 , RGD:39458042
NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621
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Il33
interleukin 33
IEP
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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Il4ra
interleukin 4 receptor, alpha
IMP
RGD
PMID:18954266
RGD:4890005
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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Marco
macrophage receptor with collagenous structure
disease_progression
IMP
RGD
PMID:28298522
RGD:41412191
NCBI chr 1:120,402,267...120,432,753
Ensembl chr 1:120,402,267...120,432,753
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Sftpc
surfactant associated protein C
IEP
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chr14:70,758,381...70,761,521
Ensembl chr14:70,758,389...70,761,521
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Il21
interleukin 21
IEP
protein:increased expression:CD4-positive helper T cell (mouse)
RGD
PMID:26597007
RGD:11086452
NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
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Comt
catechol-O-methyltransferase
severity
ISO
DNA:missense mutation:cds: (rs4680) (human)
RGD
PMID:20184498
RGD:8662334
NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602
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Cxcl15
C-X-C motif chemokine ligand 15
ISO
DNA:SNP:promoter:g.-251T>A (human)
RGD
PMID:17709521
RGD:150523787
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Tlr2
toll-like receptor 2
IEP
mRNA:increased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4
toll-like receptor 4
IEP
mRNA:decreased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tlr2
toll-like receptor 2
ISO
mRNA:increased expression:cornea:
RGD
PMID:19474209
RGD:2312502
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression:cornea
RGD
PMID:19474209
RGD:2312502
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Clec7a
C-type lectin domain family 7, member a
treatment
IMP IEP
mRNA:increased expression:cornea
RGD
PMID:26963514 PMID:26963514
RGD:11526921 , RGD:11526921
NCBI chr 6:129,438,554...129,449,748
Ensembl chr 6:129,438,554...129,449,742
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Tlr4
toll-like receptor 4
IMP
associated with Aspergillosis
RGD
PMID:20617171
RGD:7794847
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Trem1
triggering receptor expressed on myeloid cells 1
treatment
ISO IEP IDA
mRNA:increased expression:cornea
RGD
PMID:26963514 PMID:26963514 PMID:26963514
RGD:11526921 , RGD:11526921 , RGD:11526921
NCBI chr17:48,539,763...48,553,955
Ensembl chr17:48,539,796...48,553,952
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Tslp
thymic stromal lymphopoietin
disease_progression
IMP
RGD
PMID:29550278 PMID:30853520
RGD:38549371 , RGD:38549574
NCBI chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850
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Ccl7
C-C motif chemokine ligand 7
IEP
RGD
PMID:20045013
RGD:5129686
NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351
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Gata2
GATA binding protein 2
ISO
associated with Pneumocystis Infections
RGD
PMID:16774119
RGD:9587813
NCBI chr 6:88,170,873...88,184,014
Ensembl chr 6:88,170,873...88,184,014
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Hc
hemolytic complement
IAGP
RGD
PMID:2612053
RGD:5130160
NCBI chr 2:34,873,341...34,958,518
Ensembl chr 2:34,873,343...34,951,450
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Il13
interleukin 13
IEP ISO
protein:increased expression:lung
RGD
PMID:19752036 PMID:16544260
RGD:4145474 , RGD:4145506
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il33
interleukin 33
IEP
protein:increased expression:lung
RGD
PMID:25746970
RGD:39938968
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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Nos2
nitric oxide synthase 2, inducible
ISO
protein:decreased expression:lung
RGD
PMID:10639453
RGD:4891455
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Sftpa1
surfactant associated protein A1
susceptibility
IMP
RGD
PMID:20413160
RGD:4143489
NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409
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Sftpd
surfactant associated protein D
susceptibility
IMP ISO
RGD
PMID:20413160 PMID:20413160
RGD:4143489 , RGD:4143489
NCBI chr14:40,894,169...40,907,155
Ensembl chr14:40,894,171...40,907,106
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Tnf
tumor necrosis factor
ISO
protein:increased expression:lung
RGD
PMID:16544260
RGD:4145506
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Cd274
CD274 antigen
treatment
IMP
RGD
PMID:23663657
RGD:40818234
NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
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Pdcd1
programmed cell death 1
treatment
IMP IEP
protein:increased expression:CD4 Tcell, CD8 Tcell:
RGD
PMID:23663657 PMID:23663657
RGD:40818234 , RGD:40818234
NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
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Cd274
CD274 antigen
IEP
protein:increased expression:macrophage, dendritic cell, lymphocyte, splenocytes,
RGD
PMID:18268348
RGD:40822806
NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
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H2-Q4
histocompatibility 2, Q region locus 4
ISO
Presumed Ocular Histoplasmosis Syndrome; DNA:polymorphisms:cds:HLA-B7 (human)
RGD
PMID:14522093
RGD:7364917
NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266
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Il17a
interleukin 17A
IEP
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:19469707
RGD:9068939
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Pdcd1
programmed cell death 1
treatment
IMP
RGD
PMID:18268348
RGD:40822806
NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
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Pdcd1lg2
programmed cell death 1 ligand 2
IEP
protein:increased expression:macrophage, dendritic cell
RGD
PMID:18268348
RGD:40822806
NCBI chr19:29,388,319...29,450,327
Ensembl chr19:29,388,319...29,448,561
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Card9
caspase recruitment domain family, member 9
susceptibility
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY | 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 PMID:35753512 More...
NCBI chr 2:26,242,199...26,250,957
Ensembl chr 2:26,242,188...26,250,930
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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 chr 2:26,272,810...26,279,352
Ensembl chr 2:26,272,814...26,279,328
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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 chr 2:26,286,261...26,299,313
Ensembl chr 2:26,286,261...26,299,215
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Pmpca
peptidase (mitochondrial processing) alpha
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 2:26,275,554...26,287,134
Ensembl chr 2:26,279,351...26,287,134
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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 chr 2:26,252,777...26,270,666
Ensembl chr 2:26,252,777...26,270,665
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Il21r
interleukin 21 receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency 31C
ClinVar
PMID:25741868
NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742
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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 | ClinVar Annotator: match by term: Immunodeficiency 31C, autosomal dominant
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 chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
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2510002D24Rik
RIKEN cDNA 2510002D24 gene
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:18,655,263...18,658,910
Ensembl chr16:18,655,328...18,658,910
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Arvcf
armadillo repeat gene deleted in velocardiofacial syndrome
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:18,166,046...18,225,826
Ensembl chr16:18,166,046...18,225,826
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Atp6v1e1
ATPase, H+ transporting, lysosomal 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 6:120,772,205...120,799,659
Ensembl chr 6:120,771,266...120,799,754
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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 6:120,813,167...120,869,803
Ensembl chr 6:120,813,173...120,869,803
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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 6:120,870,080...120,894,074
Ensembl chr 6:120,868,891...120,893,814
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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 chr16:18,599,202...18,632,371
Ensembl chr16:18,599,197...18,630,737
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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 6:120,643,275...120,748,152
Ensembl chr 6:120,643,330...120,748,151
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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 chr16:18,595,597...18,597,012
Ensembl chr16:18,595,597...18,597,012
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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 chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602
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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 chr16:17,658,219...17,709,592
Ensembl chr16:17,657,346...17,716,426
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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 chr16:17,870,736...17,889,497
Ensembl chr16:17,870,724...17,889,496
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Ess2
ess-2 splicing factor
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:17,718,573...17,729,225
Ensembl chr16:17,718,573...17,729,212
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Gnb1l
guanine nucleotide binding protein (G protein), beta polypeptide 1-like
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:18,316,029...18,385,430
Ensembl chr16:18,317,463...18,385,429
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Gp1bb
glycoprotein Ib, beta polypeptide
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:18,439,069...18,441,153
Ensembl chr16:18,439,067...18,441,153
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Gsc2
goosecoid homebox 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:17,730,978...17,732,891
Ensembl chr16:17,730,971...17,732,923
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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 6:120,486,453...120,508,319
Ensembl chr 6:120,486,455...120,508,280
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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 chr16:18,695,500...18,789,059
Ensembl chr16:18,695,787...18,789,059
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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 6:120,440,143...120,460,692
Ensembl chr 6:120,440,208...120,464,520
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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 6:120,908,507...121,150,716
Ensembl chr 6:120,908,668...121,107,959
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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 chr16:18,690,767...18,695,875
Ensembl chr16:18,690,768...18,695,612
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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 6:121,160,176...121,175,796
Ensembl chr 6:121,160,626...121,175,796
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Prodh
proline dehydrogenase
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:17,889,593...17,907,147
Ensembl chr16:17,878,221...17,908,067
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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 chr16:18,440,561...18,448,688
Ensembl chr16:18,439,252...18,448,704
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Slc25a1
solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:17,743,075...17,746,083
Ensembl chr16:17,743,087...17,746,083
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Slc25a18
solute carrier family 25 (mitochondrial carrier), member 18
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 6:120,750,527...120,771,297
Ensembl chr 6:120,750,539...120,771,297
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Tango2
transport and golgi organization 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:18,118,689...18,165,962
Ensembl chr16:18,118,689...18,165,967
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Tbx1
T-box 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421
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Tmem121b
transmembrane protein 121B
ISO
ClinVar Annotator: match by term: Immunodeficiency 51
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 6:120,465,900...120,470,907
Ensembl chr 6:120,465,900...120,470,768
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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 chr16:17,716,501...17,717,888
Ensembl chr16:17,716,501...17,717,888
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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 6:121,187,666...121,209,304
Ensembl chr 6:121,187,655...121,203,813
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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 chr16:18,245,167...18,297,823
Ensembl chr16:18,245,134...18,297,823
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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 chr16:18,630,486...18,654,011
Ensembl chr16:18,630,529...18,654,011
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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 6:121,222,865...121,247,876
Ensembl chr 6:121,222,865...121,247,876
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Tlr6
toll-like receptor 6
susceptibility
ISO
DNA:SNP:cds:rs3775073(1263A>G)(p.Lys421Lys)(human)
RGD
PMID:25213166
RGD:127229900
NCBI chr 5:65,109,373...65,128,387
Ensembl chr 5:65,109,374...65,117,440
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Ager
advanced glycosylation end product-specific receptor
IMP
RGD
PMID:21423669
RGD:5508765
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Ccl2
C-C motif chemokine ligand 2
severity
IMP
RGD
PMID:11160230
RGD:11528533
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl20
C-C motif chemokine ligand 20
IEP
protein:increased expression:lung
RGD
PMID:20926800
RGD:7483599
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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Ccr6
C-C motif chemokine receptor 6
disease_progression
IMP
RGD
PMID:17379855
RGD:7483617
NCBI chr17:8,454,875...8,477,353
Ensembl chr17:8,454,875...8,475,973
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:17298426
RGD:5135501
NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875
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Cybb
cytochrome b-245, beta polypeptide
IMP
RGD
PMID:24054721
RGD:10450528
NCBI chr X:9,301,493...9,354,005
Ensembl chr X:9,301,491...9,354,010
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Cyp2c38
cytochrome P450, family 2, subfamily c, polypeptide 38
treatment
ISO
DNA:polymorphisms:cds:
RGD
PMID:26861072
RGD:124713410
NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519
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Elane
elastase, neutrophil expressed
IMP
RGD
PMID:24054721
RGD:10450528
NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049
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Il17a
interleukin 17A
severity
IMP
RGD
PMID:21807912
RGD:8698654
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Mbl2
mannose-binding lectin (protein C) 2
ISO
DNA:SNP:exon:rs5030737(human)
RGD
PMID:17311505
RGD:8693758
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Ptx3
pentraxin related gene
severity
ISO
DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527 protein:increased expression:bronchoalveolar lavage fluid (human)
RGD
PMID:30275011 PMID:28487045
RGD:38501097 , RGD:38508892
NCBI chr 3:66,127,308...66,133,227
Ensembl chr 3:66,127,331...66,133,226
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S100b
S100 protein, beta polypeptide, neural
IMP
RGD
PMID:21423669
RGD:5508765
NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
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Tlr2
toll-like receptor 2
IMP
RGD
PMID:16113258
RGD:8553022
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:polymorphism:exon:p.D299G(human)
RGD
PMID:18275280
RGD:5130863
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Itgam
integrin alpha M
IEP
protein: increased expression: kidney
RGD
PMID:21063074
RGD:7207265
NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
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Ptx3
pentraxin related gene
severity
ISO
associated with hematologic cancer;DNA:SNP:intron:rs1840680
RGD
PMID:30275011
RGD:38501097
NCBI chr 3:66,127,308...66,133,227
Ensembl chr 3:66,127,331...66,133,226
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Cyp2c38
cytochrome P450, family 2, subfamily c, polypeptide 38
treatment
ISO
DNA:polymorphisms:: DNA:polymorphism:: CYP2C19*17(rs12248560)(human)
RGD
PMID:25239277 PMID:31222084
RGD:124713540 , RGD:124713541
NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519
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Ptx3
pentraxin related gene
severity
ISO
DNA:SNPs:intron:rs2305619, rs1840680 (human)
RGD
PMID:30275011
RGD:38501097
NCBI chr 3:66,127,308...66,133,227
Ensembl chr 3:66,127,331...66,133,226
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Ccl2
C-C motif chemokine ligand 2
treatment
ISO
RGD
PMID:12917249
RGD:11528529
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Fgf2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
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Il1a
interleukin 1 alpha
ISO
DNA:polymorphism, haplotype:promoter:-889C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Il1b
interleukin 1 beta
ISO
DNA:polymorphism, haplotype: :-511C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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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 chr14:30,608,433...30,623,943
Ensembl chr14:30,608,433...30,624,310
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Mbl2
mannose-binding lectin (protein C) 2
treatment
ISO
RGD
PMID:17335555
RGD:8693746
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Ptx3
pentraxin related gene
susceptibility no_association
ISO
DNA:SNP:intron:rs1840680 (human) protein:increased expression:bronchoalveolar lavage fluid, plasma (human) protein:increased expression:plasma DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527
RGD
PMID:29020397 PMID:29964232 PMID:29020397 PMID:29020397
RGD:38501098 , RGD:38508894 , RGD:38501098 , RGD:38501098
NCBI chr 3:66,127,308...66,133,227
Ensembl chr 3:66,127,331...66,133,226
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Vegfa
vascular endothelial growth factor A
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Emilin2
elastin microfibril interfacer 2
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:15994876 PMID:23087183 PMID:28492532
NCBI chr17:71,559,167...71,618,551
Ensembl chr17:71,559,167...71,618,973
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Lpin2
lipin 2
ISO
ClinVar Annotator: match by term: Majeed syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 PMID:16199547 PMID:17330256 PMID:17576681 PMID:18409191 PMID:19717560 PMID:20032092 PMID:20301735 PMID:20645851 PMID:23087183 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26386126 PMID:27860302 PMID:28492532 PMID:28600779 PMID:29387759 PMID:31598604 PMID:31727123 PMID:33314777 PMID:33670882 More...
NCBI chr17:71,490,527...71,556,813
Ensembl chr17:71,489,555...71,556,812
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Myl12a
myosin, light chain 12A, regulatory, non-sarcomeric
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr17:71,300,788...71,309,528
Ensembl chr17:71,300,651...71,309,873
G
Myl12b
myosin, light chain 12B, regulatory
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr17:71,280,958...71,297,511
Ensembl chr17:71,280,128...71,297,885
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Myom1
myomesin 1
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr17:71,326,455...71,433,851
Ensembl chr17:71,309,628...71,433,851
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Smchd1
SMC hinge domain containing 1
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:15994876 PMID:23087183 PMID:28492532
NCBI chr17:71,651,484...71,782,361
Ensembl chr17:71,651,484...71,782,338
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Tgif1
TGFB-induced factor homeobox 1
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr17:71,151,200...71,160,527
Ensembl chr17:71,151,200...71,160,541
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Crp
C-reactive protein, pentraxin-related
disease_progression
ISO
RGD
PMID:22578647
RGD:9491592
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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Rela
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
ISO
protein:increased expression:mucosa of middle ear,skin of ear canal:
RGD
PMID:24690988
RGD:8552995
NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
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Tlr2
toll-like receptor 2
ISO
protein:increased expression:mucosa of middle ear,skin of ear canal:
RGD
PMID:24690988
RGD:8552995
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4
toll-like receptor 4
ISO
protein:increased expression:mucosa of middle ear,skin of ear canal:
RGD
PMID:24690988
RGD:8552995
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Cebpb
CCAAT/enhancer binding protein beta
susceptibility
IMP
RGD
PMID:26317211
RGD:11079756
NCBI chr 2:167,530,835...167,532,352
Ensembl chr 2:167,530,835...167,532,338
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Il23a
interleukin 23, alpha subunit p19
severity
IMP
RGD
PMID:19204111
RGD:39457957
NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621
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Lcn2
lipocalin 2
no_association
IEP IMP
mRNA:increased expression:tongues:
RGD
PMID:24343647 PMID:24343647
RGD:126725083 , RGD:126725083
NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264
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Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chr 9:110,848,360...110,871,834
Ensembl chr 9:110,848,339...110,871,835
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Zc3h12a
zinc finger CCCH type containing 12A
IMP
RGD
PMID:26320658
RGD:11534569
NCBI chr 4:125,012,207...125,021,674
Ensembl chr 4:125,012,216...125,021,633
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
associated with Anemia, Sickle Cell;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*050101, HLA-DQB1*0201, HLA-DQB1*0302 (human)
RGD
PMID:18312480
RGD:11041747
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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Ccr5
C-C motif chemokine receptor 5
IMP
RGD
PMID:18292527
RGD:4892087
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Cd28
CD28 antigen
IMP
RGD
PMID:20713624
RGD:5131616
NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
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Cfb
complement factor B
ISO
RGD
PMID:7921333
RGD:7421526
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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H2-Eb1
histocompatibility 2, class II antigen E beta
severity
ISO
DNA:polymorphism, haplotype:cds:HLA-DRB1*11 (human)
RGD
PMID:17325942
RGD:5147631
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Icam1
intercellular adhesion molecule 1
IMP
RGD
PMID:17003484
RGD:8547589
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Ido1
indoleamine 2,3-dioxygenase 1
IEP
mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse)
RGD
PMID:27992577
RGD:39939072
NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025
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Il18
interleukin 18
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
G
Il1b
interleukin 1 beta
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1rl1
interleukin 1 receptor-like 1
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575
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Il33
interleukin 33
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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Mmp2
matrix metallopeptidase 2
IDA
RGD
PMID:19765107
RGD:8657058
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp9
matrix metallopeptidase 9
IDA
RGD
PMID:19765107
RGD:8657058
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:−308G>A(human)
RGD
PMID:17145373
RGD:7401182
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
H2-Eb1
histocompatibility 2, class II antigen E beta
ISO
mRNA:increased expression:bronchoalveolar lavage, alveolar macrophage (rat)
RGD
PMID:20377877
RGD:4144112
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Azin1
antizyme inhibitor 1
ISO
mRNA:increased expression:alveolar macrophage
RGD
PMID:19158080
RGD:14700806
NCBI chr15:38,487,674...38,523,506
Ensembl chr15:38,487,671...38,519,510
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C3
complement component 3
ISO
RGD
PMID:17169032
RGD:5129525
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20618689
RGD:4891428
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Cd40
CD40 antigen
treatment
IDA
RGD
PMID:10968950
RGD:8547797
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
G
Csf2
colony stimulating factor 2 (granulocyte-macrophage)
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:19487471
RGD:5131475
NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
RGD
PMID:20377877
RGD:4144112
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
G
Il23a
interleukin 23, alpha subunit p19
IMP
RGD
PMID:17403873
RGD:39458043
NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621
G
Il33
interleukin 33
treatment
IDA
RGD
PMID:21220696
RGD:40400892
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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Muc1
mucin 1, transmembrane
ISO
protein:increased expression:serum
RGD
PMID:9617869
RGD:5131424
NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688
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Nos2
nitric oxide synthase 2, inducible
ISO
protein:decreased dimerization:alveolar macrophage mRNA:increased expression:alveolar macrophage
RGD
PMID:20558778 PMID:20377877
RGD:4891486 , RGD:4144112
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
G
Sftpa1
surfactant associated protein A1
IEP
protein:increased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409
G
Sftpb
surfactant associated protein B
IEP
protein:decreased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr 6:72,281,594...72,291,354
Ensembl chr 6:72,281,594...72,291,354
G
Sftpc
surfactant associated protein C
IEP
protein:decreased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr14:70,758,381...70,761,521
Ensembl chr14:70,758,389...70,761,521
G
Sftpd
surfactant associated protein D
IEP
protein:increased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr14:40,894,169...40,907,155
Ensembl chr14:40,894,171...40,907,106
G
Tlr2
toll-like receptor 2
IMP
RGD
PMID:18400546
RGD:4145341
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
G
H2-M2
histocompatibility 2, M region locus 2
ISO
DNA:polymorphism:cds:HLA-B7 (human)
RGD
PMID:14522093
RGD:7364917
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
G
Ptx3
pentraxin related gene
ISO
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
RGD
PMID:29964232
RGD:38508894
NCBI chr 3:66,127,308...66,133,227
Ensembl chr 3:66,127,331...66,133,226
G
Ada
adenosine deaminase
ISO
protein:altered activity:serum,lymphocyte
RGD
PMID:22169893
RGD:152995407
NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159
G
Tlr4
toll-like receptor 4
IMP
RGD
PMID:19740386
RGD:7794681
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
G
Mpo
myeloperoxidase
severity
IMP
RGD
PMID:12085336
RGD:40903072
NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239
G
Tnf
tumor necrosis factor
IEP
mRNA, protein:increased expression:spleen, plasma
RGD
PMID:11562071
RGD:10449457
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
Cxcl15
C-X-C motif chemokine ligand 15
ISO
associated with human immunodeficiency virus infectious disease;protein:increased expression:vaginal fluid (human)
RGD
PMID:18243333
RGD:150523783
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
G
Ido1
indoleamine 2,3-dioxygenase 1
IMP
RGD
PMID:23853597
RGD:39938863
NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025
G
Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chr 9:110,848,360...110,871,834
Ensembl chr 9:110,848,339...110,871,835
G
Mbl2
mannose-binding lectin (protein C) 2
ISO
DNA:SNP:cds:
RGD
PMID:17470593
RGD:8693700
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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