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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl20
C-C motif chemokine ligand 20
ISO
associated with Rhinosinusitis
RGD
PMID:22287435
RGD:7483612
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:22287435
RGD:7483612
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr6
C-C motif chemokine receptor 6
ISO
associated with Rhinosinusitis
RGD
PMID:22287435
RGD:7483612
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
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Mbl2
mannose binding lectin 2
treatment
ISO
associated with Hematologic Diseases;DNA:polymorphisms:promoter,exon:
RGD
PMID:24886325
RGD:11530048
NCBI chr 1:228,016,439...228,024,736
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Ccl17
C-C motif chemokine ligand 17
ISO
associated with Cystic Fibrosis
RGD
PMID:17898016
RGD:4145612
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:15951834
RGD:5688155
NCBI chr 8:123,556,286...123,561,841
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:10946288
RGD:8661731
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Cftr
CF transmembrane conductance regulator
ISO
DNA:mutations: :
RGD
PMID:11243954
RGD:4140482
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:7743671
RGD:8547590
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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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 chr 1:228,016,439...228,024,736
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human)
RGD
PMID:23278646
RGD:36049760
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
associated with cystic fibrosis; DNA:polymorphisms: :
RGD
PMID:23278646
RGD:36049760
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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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:5130863 , RGD:5130858
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnf
tumor necrosis factor
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1a
TNF receptor superfamily member 1A
susceptibility
ISO
DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human)
RGD
PMID:20646338
RGD:5131174
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Ager
advanced glycosylation end product-specific receptor
ISO
DNA:SNP:promoter:-374T>A (human)
RGD
PMID:22114731
RGD:8695981
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Ccl19
C-C motif chemokine ligand 19
ISO
associated with Neutropenia;mRNA:increased expression:lung
RGD
PMID:19783686
RGD:5130908
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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Ccr7
C-C motif chemokine receptor 7
ISO
associated with Neutropenia
RGD
PMID:19783686
RGD:5130908
NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
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Cd209d
CD209d molecule
ISO
RGD
PMID:21381282
RGD:5131183
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Cftr
CF transmembrane conductance regulator
severity
ISO
RGD
PMID:22135344
RGD:35673332
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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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 4:162,875,360...162,902,571
Ensembl chr 4:162,877,346...162,901,247
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Clec7a
C-type lectin domain containing 7A
susceptibility
ISO
ClinVar Annotator: match by term: Aspergillosis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868
NCBI chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897
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Crp
C-reactive protein
treatment
ISO
RGD
PMID:20879853
RGD:9495929
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Il15
interleukin 15
ISO
DNA:polymorphism (human)
RGD
PMID:16893395
RGD:4981337
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Mbl1
mannose binding lectin 1
susceptibility
ISO
RGD
PMID:20064561
RGD:8694071
NCBI chr16:17,029,146...17,035,187
Ensembl chr16:17,029,118...17,035,174
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Mbl2
mannose binding lectin 2
susceptibility
ISO
RGD
PMID:20064561
RGD:8694071
NCBI chr 1:228,016,439...228,024,736
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S100b
S100 calcium binding protein B
ISO
DNA:SNP: :427C>T (human)
RGD
PMID:22114731
RGD:8695981
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Tlr1
toll-like receptor 1
susceptibility
ISO
DNA:SNPs: :p.R80T, p.N248S (human)
RGD
PMID:16461792
RGD:4889535
NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
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Tlr2
toll-like receptor 2
ISO
mRNA:increased expression:lung
RGD
PMID:19781388
RGD:4145322
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr6
toll-like receptor 6
susceptibility
ISO
DNA:SNP: :p.S249P (human)
RGD
PMID:16461792
RGD:4889535
NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic | ClinVar Annotator: match by term: RELA-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28600438 PMID:29758562 PMID:32969189 PMID:35412596 PMID:36926348 More...
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Sipa1
signal-induced proliferation-associated 1
ISO
ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic
ClinVar
PMID:25741868 PMID:28492532 PMID:28600438 PMID:36926348
NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591
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Cd1d1
CD1d1 molecule
ameliorates
ISO
associated with endotoxemia
RGD
PMID:32154791
RGD:127345119
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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Ephb2
Eph receptor B2
exacerbates
ISO
RGD
PMID:33685996
RGD:127229905
NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
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Aire
autoimmune regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12050215
NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060
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Chrm2
cholinergic receptor, muscarinic 2
ISO
RGD
PMID:19958780
RGD:5509581
NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103
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Il33
interleukin 33
treatment
ISO
RGD
PMID:22661085
RGD:40400896
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Ltf
lactotransferrin
ISO
RGD
PMID:17922408
RGD:7243948
NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
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Mapk8
mitogen-activated protein kinase 8
ameliorates
ISO
RGD
PMID:28112734
RGD:150340684
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Ncr1
natural cytotoxicity triggering receptor 1
disease_progression
ISO
RGD
PMID:27736647
RGD:40818241
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
ISO
RGD
PMID:30944411
RGD:127229913
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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Clec7a
C-type lectin domain containing 7A
susceptibility
ISO
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 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897
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Il17f
interleukin 17F
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 6
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29458167 PMID:30290665 PMID:32047491 PMID:32185379 PMID:34587561 PMID:35753512 PMID:35874679 More...
NCBI chr 9:23,190,094...23,201,482
Ensembl chr 9:23,190,100...23,201,482
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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 chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
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Brk1
BRICK1 subunit of SCAR/WAVE actin nucleating complex
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856
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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 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173
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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 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499
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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 4:146,663,065...146,678,976
Ensembl chr 4:146,663,067...146,679,029
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Fancd2
FA complementation group D2
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
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Fancd2os
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
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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 chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442
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Il17re
interleukin 17 receptor E
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,604,547...146,618,206
Ensembl chr 4:146,605,526...146,618,206
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Jagn1
jagunal homolog 1
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288
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Prrt3
proline-rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,641,173...146,650,487
Ensembl chr 4:146,641,173...146,650,317
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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Ifng
interferon gamma
treatment
ISO
RGD
PMID:29481557
RGD:14975102
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Clec7a
C-type lectin domain containing 7A
ISO
ClinVar Annotator: match by term: Candidiasis familial chronic mucocutaneous, autosomal recessive
ClinVar
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868
NCBI chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897
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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 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
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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 chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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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 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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Acyp2
acylphosphatase 2
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr14:104,201,894...104,371,415
Ensembl chr14:104,201,895...104,371,386
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Il1r1
interleukin 1 receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
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Mlkl
mixed lineage kinase domain like pseudokinase
ISO
ClinVar Annotator: match by term: Chronic multifocal osteomyelitis
ClinVar
NCBI chr19:39,277,526...39,304,555
Ensembl chr19:39,276,785...39,304,502
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Mynn
myoneurin
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr 2:112,779,654...112,797,188
Ensembl chr 2:112,779,657...112,796,397
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Pstpip2
proline-serine-threonine phosphatase-interacting protein 2
ISS
OMIM:259680
MouseDO
NCBI chr18:71,310,387...71,396,752
Ensembl chr18:71,311,020...71,395,709
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Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
PMID:16890917 PMID:25741868 PMID:28492532
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Zbtb46
zinc finger and BTB domain containing 46
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782
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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 3:7,072,511...7,075,439
Ensembl chr 3:7,072,511...7,075,439
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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 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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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 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016
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Nfkbia
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
ClinVar
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Il1r1
interleukin 1 receptor type 1
ISO
ClinVar Annotator: match by term: Chronic recurrent multifocal osteomyelitis 3
OMIM ClinVar
NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
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Mbl2
mannose binding lectin 2
ISO
protein:decreased secretion:serum (human)
RGD
PMID:19083122
RGD:4889458
NCBI chr 1:228,016,439...228,024,736
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Cd274
CD274 molecule
treatment
ISO
RGD
PMID:29058791
RGD:41412178
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Mbl2
mannose binding lectin 2
susceptibility
ISO
associated with HIV Infections;DNA:polymorphism:cds:
RGD
PMID:21592999
RGD:12910861
NCBI chr 1:228,016,439...228,024,736
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:29058791 PMID:29058791
RGD:41412178 , RGD:41412178
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Btk
Bruton tyrosine kinase
exacerbates
ISO
RGD
PMID:23820392
RGD:124715476
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Ccl2
C-C motif chemokine ligand 2
ISO
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:11714821
RGD:11528563
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Cd40
CD40 molecule
treatment
ISO
RGD
PMID:16552046
RGD:7248435
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd86
CD86 molecule
ISO
protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:16790753
RGD:4892554
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Chia
chitinase, acidic
IEP
protein:increased expression:lung (rat)
RGD
PMID:18482441
RGD:4990459
NCBI chr 2:193,614,374...193,656,532
Ensembl chr 2:193,614,114...193,656,533
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Il23a
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:16393998 PMID:22342846
RGD:39457936 , RGD:39458042
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Il33
interleukin 33
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Il4r
interleukin 4 receptor
ISO
RGD
PMID:18954266
RGD:4890005
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Marco
macrophage receptor with collagenous structure
disease_progression
ISO
RGD
PMID:28298522
RGD:41412191
NCBI chr13:31,616,278...31,648,521
Ensembl chr13:31,616,278...31,648,521
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Sftpc
surfactant protein C
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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Il21
interleukin 21
ISO
protein:increased expression:CD4-positive helper T cell (mouse)
RGD
PMID:26597007
RGD:11086452
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Comt
catechol-O-methyltransferase
severity
ISO
DNA:missense mutation:cds: (rs4680) (human)
RGD
PMID:20184498
RGD:8662334
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Tlr2
toll-like receptor 2
ISO
mRNA:increased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
mRNA:decreased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr2
toll-like receptor 2
IEP
mRNA:increased expression:cornea
RGD
PMID:19474209
RGD:2312502
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
IEP
mRNA:increased expression:cornea
RGD
PMID:19474209
RGD:2312502
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Clec7a
C-type lectin domain containing 7A
treatment
ISO
mRNA:increased expression:cornea
RGD
PMID:26963514 PMID:26963514
RGD:11526921 , RGD:11526921
NCBI chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:20617171
RGD:7794847
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Trem1
triggering receptor expressed on myeloid cells 1
treatment
ISO
mRNA:increased expression:cornea
RGD
PMID:26963514 PMID:26963514 PMID:26963514
RGD:11526921 , RGD:11526921 , RGD:11526921
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Tslp
thymic stromal lymphopoietin
disease_progression
ISO
RGD
PMID:29550278 PMID:30853520
RGD:38549371 , RGD:38549574
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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C5
complement C5
ISO
RGD
PMID:2612053
RGD:5130160
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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Ccl7
C-C motif chemokine ligand 7
ISO
RGD
PMID:20045013
RGD:5129686
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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Gata2
GATA binding protein 2
IEP
associated with Pneumocystis Infections
RGD
PMID:16774119
RGD:9587813
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
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Il13
interleukin 13
IEP ISO
protein:increased expression:lung
RGD
PMID:16544260 PMID:19752036
RGD:4145506 , RGD:4145474
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il33
interleukin 33
ISO
protein:increased expression:lung
RGD
PMID:25746970
RGD:39938968
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Nos2
nitric oxide synthase 2
IEP
protein:decreased expression:lung
RGD
PMID:10639453
RGD:4891455
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Sftpa1
surfactant protein A1
susceptibility
ISO
RGD
PMID:20413160
RGD:4143489
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Sftpd
surfactant protein D
susceptibility
ISO
RGD
PMID:20413160 PMID:20413160
RGD:4143489 , RGD:4143489
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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Tnf
tumor necrosis factor
IEP
protein:increased expression:lung
RGD
PMID:16544260
RGD:4145506
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Cd274
CD274 molecule
treatment
ISO
RGD
PMID:23663657
RGD:40818234
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Pdcd1
programmed cell death 1
treatment
ISO
protein:increased expression:CD4 Tcell, CD8 Tcell:
RGD
PMID:23663657 PMID:23663657
RGD:40818234 , RGD:40818234
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Cd274
CD274 molecule
ISO
protein:increased expression:macrophage, dendritic cell, lymphocyte, splenocytes,
RGD
PMID:18268348
RGD:40822806
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Il17a
interleukin 17A
ISO
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:19469707
RGD:9068939
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:18268348
RGD:40822806
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Pdcd1lg2
programmed cell death 1 ligand 2
ISO
protein:increased expression:macrophage, dendritic cell
RGD
PMID:18268348
RGD:40822806
NCBI chr 1:227,158,941...227,223,938
Ensembl chr 1:227,158,941...227,223,938
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RT1-CE13
RT1 class I, locus CE13
ISO
Presumed Ocular Histoplasmosis Syndrome; DNA:polymorphisms:cds:HLA-B7 (human)
RGD
PMID:14522093
RGD:7364917
NCBI chr20:3,314,830...3,318,106
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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 chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
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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 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
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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 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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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 chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
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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 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
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Il21r
interleukin 21 receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency 31C
ClinVar
PMID:25741868
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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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 chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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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 chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805
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Atp6v1e1
ATPase H+ transporting V1 subunit E1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:154,022,358...154,044,486
Ensembl chr 4:154,022,358...154,044,584
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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 4:154,056,116...154,112,890
Ensembl chr 4:154,056,127...154,108,985
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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 4:154,113,198...154,136,353
Ensembl chr 4:154,113,198...154,134,720
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C11h22orf39
similar to human chromosome 22 open reading frame 39
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
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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 chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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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 4:153,890,310...153,998,078
Ensembl chr 4:153,890,206...153,993,451
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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 chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
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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 chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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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 chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502
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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 chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823
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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 chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846
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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 chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
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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 chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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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 chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126
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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 4:153,701,026...153,753,303
Ensembl chr 4:153,718,791...153,753,277
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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 chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
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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 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
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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 4:154,152,776...154,353,274
Ensembl chr 4:154,153,834...154,302,590
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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 chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233
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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 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
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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 chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305
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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 chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
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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 chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
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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 chr 4:154,000,808...154,021,373
Ensembl chr 4:154,000,990...154,021,372
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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 chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
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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 chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Tmem121b
transmembrane protein 121B
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:153,695,191...153,700,104
Ensembl chr 4:153,698,194...153,699,912
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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 chr11:83,086,578...83,087,933
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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 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917
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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 chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
G
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 chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087
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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 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144
G
Tlr6
toll-like receptor 6
susceptibility
ISO
DNA:SNP:cds:rs3775073(1263A>G)(p.Lys421Lys)(human)
RGD
PMID:25213166
RGD:127229900
NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
G
Ager
advanced glycosylation end product-specific receptor
ISO
RGD
PMID:21423669
RGD:5508765
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
G
Ccl2
C-C motif chemokine ligand 2
severity
ISO
RGD
PMID:11160230
RGD:11528533
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:lung
RGD
PMID:20926800
RGD:7483599
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
G
Ccr6
C-C motif chemokine receptor 6
disease_progression
ISO
RGD
PMID:17379855
RGD:7483617
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
G
Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:17298426
RGD:5135501
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
G
Cybb
cytochrome b-245 beta chain
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
G
Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment
ISO
DNA:polymorphisms:cds:
RGD
PMID:26861072
RGD:124713410
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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Elane
elastase, neutrophil expressed
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
G
Il17a
interleukin 17A
severity
ISO
RGD
PMID:21807912
RGD:8698654
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Mbl2
mannose binding lectin 2
ISO
DNA:SNP:exon:rs5030737(human)
RGD
PMID:17311505
RGD:8693758
NCBI chr 1:228,016,439...228,024,736
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Ptx3
pentraxin 3
severity
ISO
DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527 protein:increased expression:bronchoalveolar lavage fluid (human)
RGD
PMID:30275011 PMID:28487045
RGD:38501097 , RGD:38508892
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
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S100b
S100 calcium binding protein B
ISO
RGD
PMID:21423669
RGD:5508765
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
G
Tlr2
toll-like receptor 2
ISO
RGD
PMID:16113258
RGD:8553022
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:polymorphism:exon:p.D299G(human)
RGD
PMID:18275280
RGD:5130863
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Itgam
integrin subunit alpha M
ISO
protein: increased expression: kidney
RGD
PMID:21063074
RGD:7207265
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
G
Ptx3
pentraxin 3
severity
ISO
associated with hematologic cancer;DNA:SNP:intron:rs1840680
RGD
PMID:30275011
RGD:38501097
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
G
Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment
ISO
DNA:polymorphisms:: DNA:polymorphism:: CYP2C19*17(rs12248560)(human)
RGD
PMID:25239277 PMID:31222084
RGD:124713540 , RGD:124713541
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
G
Ptx3
pentraxin 3
severity
ISO
DNA:SNPs:intron:rs2305619, rs1840680 (human)
RGD
PMID:30275011
RGD:38501097
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
G
Ccl2
C-C motif chemokine ligand 2
treatment
IDA
RGD
PMID:12917249
RGD:11528529
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Cd209d
CD209d molecule
susceptibility
ISO
DNA:SNPs:3'utr,intron:multiple
RGD
PMID:22384201
RGD:39938996
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
G
Fgf2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
G
Il1a
interleukin 1 alpha
ISO
DNA:polymorphism, haplotype:promoter:-889C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
G
Il1b
interleukin 1 beta
ISO
DNA:polymorphism, haplotype: :-511C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Itih4
inter-alpha-trypsin inhibitor heavy chain 4
IEP
protein:increased expression:respiratory system fluid/secretion, serum
RGD
PMID:24360996
RGD:40903005
NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708
G
Mbl2
mannose binding lectin 2
treatment
ISO
RGD
PMID:17335555
RGD:8693746
NCBI chr 1:228,016,439...228,024,736
G
Ptx3
pentraxin 3
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 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
G
Vegfa
vascular endothelial growth factor A
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Emilin2
elastin microfibril interfacer 2
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:15994876 PMID:23087183 PMID:28492532
NCBI chr 9:111,160,708...111,220,463
Ensembl chr 9:111,160,712...111,220,352
G
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 chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193
G
Myl12a
myosin light chain 12A
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr 9:110,891,970...110,899,655
Ensembl chr 9:110,873,959...110,916,580
G
Myl12b
myosin light chain 12B
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr 9:110,873,855...110,888,187
G
Myom1
myomesin 1
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
G
Smchd1
structural maintenance of chromosomes flexible hinge domain containing 1
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:15994876 PMID:23087183 PMID:28492532
NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
G
Tgif1
TGFB-induced factor homeobox 1
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802
G
Crp
C-reactive protein
disease_progression
ISO
RGD
PMID:22578647
RGD:9491592
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
G
Rela
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:mucosa of middle ear,skin of ear canal:
RGD
PMID:24690988
RGD:8552995
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
G
Tlr2
toll-like receptor 2
ISO
protein:increased expression:mucosa of middle ear,skin of ear canal:
RGD
PMID:24690988
RGD:8552995
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr4
toll-like receptor 4
ISO
protein:increased expression:mucosa of middle ear,skin of ear canal:
RGD
PMID:24690988
RGD:8552995
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Cebpb
CCAAT/enhancer binding protein beta
susceptibility
ISO
RGD
PMID:26317211
RGD:11079756
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
G
Il23a
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:19204111
RGD:39457957
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
G
Lcn2
lipocalin 2
no_association
ISO
mRNA:increased expression:tongues:
RGD
PMID:24343647 PMID:24343647
RGD:126725083 , RGD:126725083
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
G
Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
G
Zc3h12a
zinc finger CCCH type containing 12A
ISO
RGD
PMID:26320658
RGD:11534569
NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351
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RT1-Bb
RT1 class II, locus Bb
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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:18292527
RGD:4892087
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd28
Cd28 molecule
ISO
RGD
PMID:20713624
RGD:5131616
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
G
Cfb
complement factor B
ISO
RGD
PMID:7921333
RGD:7421526
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:17003484
RGD:8547589
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse)
RGD
PMID:27992577
RGD:39939072
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
G
Il18
interleukin 18
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il1b
interleukin 1 beta
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rl1
interleukin 1 receptor-like 1
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
G
Il33
interleukin 33
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
G
Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:19765107
RGD:8657058
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:19765107
RGD:8657058
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
RT1-Db1
RT1 class II, locus Db1
severity
ISO
DNA:polymorphism, haplotype:cds:HLA-DRB1*11 (human)
RGD
PMID:17325942
RGD:5147631
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:−308G>A(human)
RGD
PMID:17145373
RGD:7401182
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
RT1-Db1
RT1 class II, locus Db1
IEP
mRNA:increased expression:bronchoalveolar lavage, alveolar macrophage (rat)
RGD
PMID:20377877
RGD:4144112
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Azin1
antizyme inhibitor 1
IEP
mRNA:increased expression:alveolar macrophage
RGD
PMID:19158080
RGD:14700806
NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578
G
C3
complement C3
IEP
RGD
PMID:17169032
RGD:5129525
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
G
Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20618689
RGD:4891428
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Cd40
CD40 molecule
treatment
ISO
RGD
PMID:10968950
RGD:8547797
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
G
Csf2
colony stimulating factor 2
IEP
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:19487471
RGD:5131475
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
G
Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:17403873
RGD:39458043
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
G
Il33
interleukin 33
treatment
ISO
RGD
PMID:21220696
RGD:40400892
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
G
Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:9617869
RGD:5131424
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
G
Nos2
nitric oxide synthase 2
IEP
mRNA:increased expression:alveolar macrophage protein:decreased dimerization:alveolar macrophage
RGD
PMID:20377877 PMID:20558778
RGD:4144112 , RGD:4891486
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
RT1-Bb
RT1 class II, locus Bb
IEP
RGD
PMID:20377877
RGD:4144112
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
Sftpa1
surfactant protein A1
ISO
protein:increased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
G
Sftpb
surfactant protein B
ISO
protein:decreased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
G
Sftpc
surfactant protein C
ISO
protein:decreased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
G
Sftpd
surfactant protein D
ISO
protein:increased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
G
Tlr2
toll-like receptor 2
ISO
RGD
PMID:18400546
RGD:4145341
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Ptx3
pentraxin 3
ISO
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
RGD
PMID:29964232
RGD:38508894
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
G
Ada
adenosine deaminase
IEP
protein:altered activity:serum,lymphocyte
RGD
PMID:22169893
RGD:152995407
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
G
Tlr4
toll-like receptor 4
ISO
RGD
PMID:19740386
RGD:7794681
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Mpo
myeloperoxidase
severity
ISO
RGD
PMID:12085336
RGD:40903072
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
G
Tnf
tumor necrosis factor
ISO
mRNA, protein:increased expression:spleen, plasma
RGD
PMID:11562071
RGD:10449457
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:23853597
RGD:39938863
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
G
Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
G
Mbl2
mannose binding lectin 2
ISO
DNA:SNP:cds:
RGD
PMID:17470593
RGD:8693700
NCBI chr 1:228,016,439...228,024,736
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all