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 Lung Diseases
Accession: DOID:9005724
browse the term
Definition: Pulmonary diseases caused by fungal infections, usually through hematogenous spread.
Synonyms: exact_synonym: Fungal Lung Disease; Pulmonary Fungal Disease; Pulmonary Fungal Diseases; Pulmonary Fungal Infection; Pulmonary Fungal Infections; fungal lung infectious disease
primary_id: MESH:D008172
xref: EFO:0007278
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C5
complement C5
ISO
RGD
PMID:2612053
RGD:5130160
NCBI chrNW_004936487:9,391,774...9,474,168
Ensembl chrNW_004936487:9,391,804...9,474,159
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Gata2
GATA binding protein 2
ISO
associated with Pneumocystis Infections
RGD
PMID:16774119
RGD:9587813
NCBI chrNW_004936798:406,258...414,785
Ensembl chrNW_004936798:406,258...414,931
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Il13
interleukin 13
ISO
protein:increased expression:lung
RGD
PMID:16544260 PMID:19752036
RGD:4145474 RGD:4145506
NCBI chrNW_004936647:2,529,933...2,532,503
Ensembl chrNW_004936647:2,530,491...2,532,373
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Il33
interleukin 33
ISO
protein:increased expression:lung
RGD
PMID:25746970
RGD:39938968
NCBI chrNW_004936539:763,755...791,461
Ensembl chrNW_004936539:623,248...791,470
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Nos2
nitric oxide synthase 2
ISO
protein:decreased expression:lung
RGD
PMID:10639453
RGD:4891455
NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051
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Sftpd
surfactant protein D
susceptibility
ISO
RGD
PMID:20413160
RGD:4143489
NCBI chrNW_004936716:60,754...73,010
Ensembl chrNW_004936716:60,656...73,099
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Tnf
tumor necrosis factor
ISO
protein:increased expression:lung
RGD
PMID:16544260
RGD:4145506
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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Ccl17
C-C motif chemokine ligand 17
ISO
associated with Cystic Fibrosis
RGD
PMID:17898016
RGD:4145612
NCBI chrNW_004936475:9,475,013...9,476,326
Ensembl chrNW_004936475:9,474,961...9,476,398
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Cftr
CF transmembrane conductance regulator
ISO
DNA:mutations: :
RGD
PMID:11243954
RGD:4140482
NCBI chrNW_004936589:1,565,933...1,719,208
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Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:7743671
RGD:8547590
NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315
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LOC101964209
C-C chemokine receptor type 1
ISO
RGD
PMID:15951834
RGD:5688155
NCBI chrNW_004936596:177,774...183,186
Ensembl chrNW_004936596:177,812...183,186
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Tnf
tumor necrosis factor
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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Tnfrsf1a
TNF receptor superfamily member 1A
susceptibility
ISO
DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human)
RGD
PMID:20646338
RGD:5131174
NCBI chrNW_004936709:1,407,327...1,421,448
Ensembl chrNW_004936709:1,407,278...1,421,921
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Ager
advanced glycosylation end-product specific receptor
ISO
DNA:SNP:promoter:-374T>A (human)
RGD
PMID:22114731
RGD:8695981
NCBI chrNW_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147
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Ccl19
C-C motif chemokine ligand 19
ISO
associated with Neutropenia;mRNA:increased expression:lung
RGD
PMID:19783686
RGD:5130908
NCBI chrNW_004936524:2,765,271...2,767,259
Ensembl chrNW_004936524:2,765,267...2,767,385
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Ccr7
C-C motif chemokine receptor 7
ISO
associated with Neutropenia
RGD
PMID:19783686
RGD:5130908
NCBI chrNW_004936490:15,575,764...15,579,766
Ensembl chrNW_004936490:15,575,764...15,579,757
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Cftr
CF transmembrane conductance regulator
severity
ISO
RGD
PMID:22135344
RGD:35673332
NCBI chrNW_004936589:1,565,933...1,719,208
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Clec1a
C-type lectin domain family 1 member A
susceptibility
ISO
ClinVar Annotator: match by term: Aspergillosis, susceptibility to
OMIM ClinVar
PMID:25741868 PMID:29489751
NCBI chrNW_004936902:458,097...480,606
Ensembl chrNW_004936902:458,033...480,638
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Clec7a
C-type lectin domain containing 7A
ISO
ClinVar Annotator: match by term: Aspergillosis, susceptibility to
ClinVar OMIM
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868
NCBI chrNW_004936902:436,224...446,435
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Crp
C-reactive protein
treatment
ISO
RGD
PMID:20879853
RGD:9495929
NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606
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Il15
interleukin 15
ISO
DNA:polymorphism (human)
RGD
PMID:16893395
RGD:4981337
NCBI chrNW_004936535:6,344,348...6,358,803
Ensembl chrNW_004936535:6,344,395...6,350,197
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Tlr1
toll like receptor 1
susceptibility
ISO
DNA:SNPs: :p.R80T, p.N248S (human)
RGD
PMID:16461792
RGD:4889535
NCBI chrNW_004936482:6,582,430...6,591,128
Ensembl chrNW_004936482:6,582,584...6,584,971
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Tlr2
toll like receptor 2
ISO
mRNA:increased expression:lung
RGD
PMID:19781388
RGD:4145322
NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788
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Tlr6
toll like receptor 6
susceptibility
ISO
DNA:SNP: :p.S249P (human)
RGD
PMID:16461792
RGD:4889535
NCBI chrNW_004936482:6,607,723...6,610,161
Ensembl chrNW_004936482:6,607,753...6,610,143
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Ager
advanced glycosylation end-product specific receptor
ISO
RGD
PMID:21423669
RGD:5508765
NCBI chrNW_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:lung
RGD
PMID:20926800
RGD:7483599
NCBI chrNW_004936525:8,238,128...8,240,974
Ensembl chrNW_004936525:8,237,831...8,240,974
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Ccr6
C-C motif chemokine receptor 6
disease_progression
ISO
RGD
PMID:17379855
RGD:7483617
NCBI chrNW_004936489:16,669,297...16,689,451
Ensembl chrNW_004936489:16,669,297...16,689,451
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:17298426
RGD:5135501
NCBI chrNW_004936762:66,636...69,694
Ensembl chrNW_004936762:66,636...69,373
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Il17a
interleukin 17A
severity
ISO
RGD
PMID:21807912
RGD:8698654
NCBI chrNW_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008
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LOC101961846
neutrophil elastase
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chrNW_004936588:345,678...347,420
Ensembl chrNW_004936588:345,678...347,413
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LOC101966992
cytochrome b-245 heavy chain
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chrNW_004936502:4,631,750...4,676,686
Ensembl chrNW_004936502:4,635,149...4,676,904
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Ptx3
pentraxin 3
severity
ISO
DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527 protein:increased expression:bronchoalveolar lavage fluid (human)
RGD
PMID:28487045 PMID:30275011
RGD:38501097 RGD:38508892
NCBI chrNW_004936519:4,303,549...4,309,143
Ensembl chrNW_004936519:4,303,464...4,309,173
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Tlr2
toll like receptor 2
ISO
RGD
PMID:16113258
RGD:8553022
NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788
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Tlr4
toll like receptor 4
susceptibility
ISO
DNA:polymorphism:exon:p.D299G(human)
RGD
PMID:18275280
RGD:5130863
NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095
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Il1a
interleukin 1 alpha
ISO
DNA:polymorphism, haplotype:promoter:-889C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315
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Il1b
interleukin 1 beta
ISO
DNA:polymorphism, haplotype: :-511C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
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Itih4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
protein:increased expression:respiratory system fluid/secretion, serum
RGD
PMID:24360996
RGD:40903005
NCBI chrNW_004936473:3,573,282...3,589,345
Ensembl chrNW_004936473:3,573,384...3,589,345
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Ptx3
pentraxin 3
no_association susceptibility
ISO
protein:increased expression:plasma DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527 protein:increased expression:bronchoalveolar lavage fluid, plasma (human) DNA:SNP:intron:rs1840680 (human)
RGD
PMID:29020397 PMID:29964232
RGD:38501098 RGD:38508894
NCBI chrNW_004936519:4,303,549...4,309,143
Ensembl chrNW_004936519:4,303,464...4,309,173
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Vegfa
vascular endothelial growth factor A
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
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Azin1
antizyme inhibitor 1
ISO
mRNA:increased expression:alveolar macrophage
RGD
PMID:19158080
RGD:14700806
NCBI chrNW_004936470:40,801,943...40,832,543
Ensembl chrNW_004936470:40,801,943...40,834,003
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C3
complement C3
ISO
RGD
PMID:17169032
RGD:5129525
NCBI chrNW_004936588:3,985,732...4,023,221
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Cd40
CD40 molecule
treatment
ISO
RGD
PMID:10968950
RGD:8547797
NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280
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Csf2
colony stimulating factor 2
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:19487471
RGD:5131475
NCBI chrNW_004936647:3,081,896...3,083,864
Ensembl chrNW_004936647:3,081,896...3,083,864
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:17403873
RGD:39458043
NCBI chrNW_004936646:743,630...745,998
Ensembl chrNW_004936646:743,688...745,836
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Il33
interleukin 33
treatment
ISO
RGD
PMID:21220696
RGD:40400892
NCBI chrNW_004936539:763,755...791,461
Ensembl chrNW_004936539:623,248...791,470
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Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:9617869
RGD:5131424
NCBI chrNW_004936580:4,691,870...4,694,092
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Nos2
nitric oxide synthase 2
ISO
protein:decreased dimerization:alveolar macrophage mRNA:increased expression:alveolar macrophage
RGD
PMID:20377877 PMID:20558778
RGD:4144112 RGD:4891486
NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051
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Sftpb
surfactant protein B
ISO
protein:decreased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chrNW_004936712:1,614,979...1,621,207
Ensembl chrNW_004936712:1,614,979...1,622,466
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Sftpc
surfactant protein C
ISO
protein:decreased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chrNW_004936555:5,966,610...5,982,083
Ensembl chrNW_004936555:5,979,417...5,982,011
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Sftpd
surfactant protein D
ISO
protein:increased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chrNW_004936716:60,754...73,010
Ensembl chrNW_004936716:60,656...73,099
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Tlr2
toll like receptor 2
ISO
RGD
PMID:18400546
RGD:4145341
NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788
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Ptx3
pentraxin 3
ISO
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
RGD
PMID:29964232
RGD:38508894
NCBI chrNW_004936519:4,303,549...4,309,143
Ensembl chrNW_004936519:4,303,464...4,309,173
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