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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
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Accession:DOID:9005724 term browser 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
 primary_id: MESH:D008172
 alt_id: RDO:0000483
For additional species annotation, visit the Alliance of Genome Resources.


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Fungal Lung Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5 complement C5 ISO RGD PMID:2612053 RGD:5130160 NCBI chr11:73,953,727...74,029,919
Ensembl chr11:73,953,727...74,029,851
JBrowse link
G CCL7 C-C motif chemokine ligand 7 ISO RGD PMID:20045013 RGD:5129686 NCBI chr 9:38,994,638...38,996,103
Ensembl chr 9:38,993,911...39,010,483
JBrowse link
G GATA2 GATA binding protein 2 ISO associated with Pneumocystis Infections RGD PMID:16774119 RGD:9587813 NCBI chr20:2,472,251...2,488,380
Ensembl chr20:2,473,912...2,480,991
JBrowse link
G IL13 interleukin 13 ISO protein:increased expression:lung RGD PMID:16544260 PMID:19752036 RGD:4145474 RGD:4145506 NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
JBrowse link
G IL33 interleukin 33 ISO protein:increased expression:lung RGD PMID:25746970 RGD:39938968 NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
JBrowse link
G LOC610540 pulmonary surfactant-associated protein A-like susceptibility ISO RGD PMID:20413160 RGD:4143489 NCBI chr 4:29,430,139...29,434,640 JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:decreased expression:lung RGD PMID:10639453 RGD:4891455 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
JBrowse link
G SFTPD surfactant protein D susceptibility ISO RGD PMID:20413160 RGD:4143489 NCBI chr 4:29,394,755...29,407,499
Ensembl chr 4:29,394,678...29,407,293
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:lung RGD PMID:16544260 RGD:4145506 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
allergic bronchopulmonary aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL17 C-C motif chemokine ligand 17 ISO associated with Cystic Fibrosis RGD PMID:17898016 RGD:4145612 NCBI chr 2:59,001,463...59,014,347
Ensembl chr 2:59,001,464...59,005,230
JBrowse link
G CCR1 chemokine (C-C motif) receptor 1 ISO RGD PMID:15951834 RGD:5688155 NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:10946288 RGD:8661731 NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
JBrowse link
G CFTR CF transmembrane conductance regulator ISO DNA:mutations: : RGD PMID:11243954 RGD:4140482 NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO associated with cystic fibrosis; DNA:polymorphisms: : RGD PMID:23278646 RGD:36049760 NCBI chr12:2,151,409...2,164,564 JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:7743671 RGD:8547590 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:8699818 RGD:7794730 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G LOC479260 mannose-binding protein A 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 4:29,419,886...29,424,377 JBrowse link
G TLR9 toll like receptor 9 susceptibility ISO DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) RGD PMID:18275280 PMID:18936185 RGD:5130858 RGD:5130863 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:8699818 RGD:7794730 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G 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 chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
JBrowse link
aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor ISO DNA:SNP:promoter:-374T>A (human) RGD PMID:22114731 RGD:8695981 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO associated with Neutropenia;mRNA:increased expression:lung RGD PMID:19783686 RGD:5130908 NCBI chr11:51,357,706...51,359,207
Ensembl chr11:51,340,530...51,359,365
JBrowse link
G CCR7 C-C motif chemokine receptor 7 ISO associated with Neutropenia RGD PMID:19783686 RGD:5130908 NCBI chr 9:22,077,976...22,092,818
Ensembl chr 9:22,068,775...22,090,656
JBrowse link
G CD209 CD209 molecule ISO RGD PMID:21381282 RGD:5131183 NCBI chr20:52,517,759...52,542,085
Ensembl chr20:52,518,036...52,520,942
JBrowse link
G CFTR CF transmembrane conductance regulator severity ISO RGD PMID:22135344 RGD:35673332 NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977
JBrowse link
G 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:29489751 NCBI chr27:35,896,421...35,920,649
Ensembl chr27:35,853,099...36,007,157
JBrowse link
G CLEC7A C-type lectin domain containing 7A susceptibility ISO ClinVar Annotator: match by term: Aspergillosis, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:19864674 PMID:20807886 PMID:24033266 NCBI chr27:35,852,685...35,885,673
Ensembl chr27:35,853,099...36,007,157
JBrowse link
G CRP C-reactive protein treatment ISO RGD PMID:20879853 RGD:9495929 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G IL15 interleukin 15 ISO DNA:polymorphism (human) RGD PMID:16893395 RGD:4981337 NCBI chr19:1,339,607...1,364,762
Ensembl chr19:1,339,967...1,364,762
JBrowse link
G LOC479260 mannose-binding protein A susceptibility ISO RGD PMID:20064561 RGD:8694071 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G S100B S100 calcium binding protein B ISO DNA:SNP: :427C>T (human) RGD PMID:22114731 RGD:8695981 NCBI chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183
JBrowse link
G TLR1 toll like receptor 1 susceptibility ISO DNA:SNPs: :p.R80T, p.N248S (human) RGD PMID:16461792 RGD:4889535 NCBI chr 3:73,504,359...73,544,822
Ensembl chr 3:73,539,715...73,544,624
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression:lung RGD PMID:19781388 RGD:4145322 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G TLR6 toll like receptor 6 susceptibility ISO DNA:SNP: :p.S249P (human) RGD PMID:16461792 RGD:4889535 NCBI chr 3:73,504,357...73,523,964
Ensembl chr 3:73,520,706...73,523,099
JBrowse link
invasive aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor ISO RGD PMID:21423669 RGD:5508765 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
JBrowse link
G CCL2 C-C motif chemokine ligand 2 severity ISO RGD PMID:11160230 RGD:11528533 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO protein:increased expression:lung RGD PMID:20926800 RGD:7483599 NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709
JBrowse link
G CCR6 C-C motif chemokine receptor 6 disease_progression ISO RGD PMID:17379855 RGD:7483617 NCBI chr 1:54,932,798...54,960,646
Ensembl chr 1:54,932,690...54,959,740
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:17298426 RGD:5135501 NCBI chr  X:55,882,433...55,884,582
Ensembl chr  X:55,882,433...55,884,582
JBrowse link
G CYBB cytochrome b-245 beta chain ISO RGD PMID:24054721 RGD:10450528 NCBI chr  X:32,533,365...32,568,149
Ensembl chr  X:32,533,320...32,568,217
JBrowse link
G ELANE elastase, neutrophil expressed ISO RGD PMID:24054721 RGD:10450528 NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932
JBrowse link
G IL17A interleukin 17A severity ISO RGD PMID:21807912 RGD:8698654 NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
JBrowse link
G LOC479260 mannose-binding protein A ISO DNA:SNP:exon:rs5030737(human) RGD PMID:17311505 RGD:8693758 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G PTX3 pentraxin 3 severity ISO protein:increased expression:bronchoalveolar lavage fluid (human)
DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527
RGD PMID:28487045 PMID:30275011 RGD:38501097 RGD:38508892 NCBI chr23:50,952,835...50,958,607
Ensembl chr23:50,952,885...50,958,167
JBrowse link
G S100B S100 calcium binding protein B ISO RGD PMID:21423669 RGD:5508765 NCBI chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:16113258 RGD:8553022 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:18275280 RGD:5130863 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
Invasive Pulmonary Aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:12917249 RGD:11528529 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CD209 CD209 molecule susceptibility ISO DNA:SNPs:3'utr,intron:multiple RGD PMID:22384201 RGD:39938996 NCBI chr20:52,517,759...52,542,085
Ensembl chr20:52,518,036...52,520,942
JBrowse link
G FGF2 fibroblast growth factor 2 treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
JBrowse link
G IL1A interleukin 1 alpha ISO DNA:polymorphism, haplotype:promoter:-889C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G IL1B interleukin 1 beta ISO DNA:polymorphism, haplotype: :-511C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 ISO protein:increased expression:respiratory system fluid/secretion, serum RGD PMID:24360996 RGD:40903005
G LOC479260 mannose-binding protein A treatment ISO RGD PMID:17335555 RGD:8693746 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G PTX3 pentraxin 3 susceptibility
no_association
ISO DNA:SNP:intron:rs1840680 (human)
protein:increased expression:plasma
DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
RGD PMID:29020397 PMID:29964232 RGD:38501098 RGD:38508894 NCBI chr23:50,952,835...50,958,607
Ensembl chr23:50,952,885...50,958,167
JBrowse link
G VEGFA vascular endothelial growth factor A treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
pneumocystosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AZIN1 antizyme inhibitor 1 ISO mRNA:increased expression:alveolar macrophage RGD PMID:19158080 RGD:14700806 NCBI chr13:4,363,996...4,396,069
Ensembl chr13:4,361,340...4,396,040
JBrowse link
G C3 complement C3 ISO RGD PMID:17169032 RGD:5129525 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:20618689 RGD:4891428 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:10968950 RGD:8547797 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CSF2 colony stimulating factor 2 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:19487471 RGD:5131475 NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959
JBrowse link
G IL23A interleukin 23 subunit alpha ISO RGD PMID:17403873 RGD:39458043 NCBI chr10:635,384...640,715
Ensembl chr10:638,719...640,359
JBrowse link
G IL33 interleukin 33 treatment ISO RGD PMID:21220696 RGD:40400892 NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
JBrowse link
G LOC610540 pulmonary surfactant-associated protein A-like ISO protein:increased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr 4:29,430,139...29,434,640 JBrowse link
G MUC1 mucin 1, cell surface associated ISO protein:increased expression:serum RGD PMID:9617869 RGD:5131424 NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690
JBrowse link
G 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 chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
JBrowse link
G SFTPB surfactant protein B ISO protein:decreased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr17:39,419,305...39,428,513
Ensembl chr17:39,386,584...39,426,229
JBrowse link
G SFTPC surfactant protein C ISO protein:decreased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457
JBrowse link
G SFTPD surfactant protein D ISO protein:increased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr 4:29,394,755...29,407,499
Ensembl chr 4:29,394,678...29,407,293
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:18400546 RGD:4145341 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
pulmonary aspergilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTX3 pentraxin 3 ISO protein:increased expression:bronchoalveolar lavage fluid, plasma (human) RGD PMID:29964232 RGD:38508894 NCBI chr23:50,952,835...50,958,607
Ensembl chr23:50,952,885...50,958,167
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13744
    disease by infectious agent 1795
      Bacterial Infections and Mycoses 708
        fungal infectious disease 132
          Fungal Lung Diseases 52
            Aspergillus Niger Infection 0
            adiaspiromycosis 0
            aspergillosis + 36
            blastomycosis 0
            invasive aspergillosis + 28
            pneumocystosis 14
Path 2
Term Annotations click to browse term
  disease 13744
    disease of anatomical entity 13398
      respiratory system disease 2658
        lower respiratory tract disease 1670
          lung disease 1634
            Fungal Lung Diseases 52
              Aspergillus Niger Infection 0
              adiaspiromycosis 0
              aspergillosis + 36
              blastomycosis 0
              invasive aspergillosis + 28
              pneumocystosis 14
paths to the root