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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 chr 1:260,995,662...261,088,868
Ensembl chr 1:260,995,662...261,133,483
JBrowse link
G GATA2 GATA binding protein 2 ISO associated with Pneumocystis Infections RGD PMID:16774119 RGD:9587813 NCBI chr13:71,981,139...71,997,626
Ensembl chr13:71,984,063...71,997,622
JBrowse link
G IL13 interleukin 13 ISO protein:increased expression:lung RGD PMID:16544260 PMID:19752036 RGD:4145474 RGD:4145506 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
JBrowse link
G IL33 interleukin 33 ISO protein:increased expression:lung RGD PMID:25746970 RGD:39938968 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,435...215,941,840
JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:decreased expression:lung RGD PMID:10639453 RGD:4891455 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
G SFTPA1 surfactant protein A1 susceptibility ISO RGD PMID:20413160 RGD:4143489 NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,107,675
JBrowse link
G SFTPD surfactant protein D susceptibility ISO RGD PMID:20413160 RGD:4143489 NCBI chr14:82,051,400...82,069,258
Ensembl chr14:82,051,451...82,067,976
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:lung RGD PMID:16544260 RGD:4145506 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
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 6:19,345,929...19,372,972
Ensembl chr 6:19,345,941...19,348,926
JBrowse link
G CCR1 C-C motif chemokine receptor 1 ISO RGD PMID:15951834 RGD:5688155 NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,220...29,233,960
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:10946288 RGD:8661731 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G CFTR CF transmembrane conductance regulator ISO DNA:mutations: : RGD PMID:11243954 RGD:4140482 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:7743671 RGD:8547590 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:8699818 RGD:7794730 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G 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 chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
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 chr13:34,353,444...34,370,990 JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:8699818 RGD:7794730 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
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 chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,073...64,331,909
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 chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO associated with Neutropenia;mRNA:increased expression:lung RGD PMID:19783686 RGD:5130908 NCBI chr10:32,110,366...32,112,529
Ensembl chr10:32,110,064...32,112,739
JBrowse link
G CCR7 C-C motif chemokine receptor 7 ISO associated with Neutropenia RGD PMID:19783686 RGD:5130908 NCBI chr12:21,857,286...21,869,211
Ensembl chr12:21,856,467...21,872,535
JBrowse link
G CD209 CD209 molecule ISO RGD PMID:21381282 RGD:5131183 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,390...71,397,969
JBrowse link
G CFTR CF transmembrane conductance regulator severity ISO RGD PMID:22135344 RGD:35673332 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
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 chr 5:61,849,042...61,870,288
Ensembl chr 5:61,849,135...61,876,044
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 chr 5:61,832,910...61,846,441
Ensembl chr 5:61,832,944...61,846,438
JBrowse link
G CRP C-reactive protein, pentraxin-related treatment ISO RGD PMID:20879853 RGD:9495929 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G IL15 interleukin 15 ISO DNA:polymorphism (human) RGD PMID:16893395 RGD:4981337 NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,307...85,740,911
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO RGD PMID:20064561 RGD:8694071 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G S100B S100 calcium binding protein B ISO DNA:SNP: :427C>T (human) RGD PMID:22114731 RGD:8695981
G TLR1 toll like receptor 1 susceptibility ISO DNA:SNPs: :p.R80T, p.N248S (human) RGD PMID:16461792 RGD:4889535 NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,621...30,155,466
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression:lung RGD PMID:19781388 RGD:4145322 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G TLR6 toll like receptor 6 susceptibility ISO DNA:SNP: :p.S249P (human) RGD PMID:16461792 RGD:4889535 NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650
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 chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 severity ISO RGD PMID:11160230 RGD:11528533 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO protein:increased expression:lung RGD PMID:20926800 RGD:7483599 NCBI chr15:129,172,743...129,176,069 JBrowse link
G CCR6 C-C motif chemokine receptor 6 disease_progression ISO RGD PMID:17379855 RGD:7483617 NCBI chr 1:2,016,600...2,034,172
Ensembl chr 1:2,018,608...2,019,821
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:17298426 RGD:5135501 NCBI chr  X:57,592,032...57,595,706
Ensembl chr  X:57,592,038...57,595,692
JBrowse link
G CYP2C49 cytochrome P450 2C49 treatment ISO DNA:polymorphisms:cds: RGD PMID:26861072 RGD:124713410 NCBI chr14:106,571,803...106,612,082 JBrowse link
G ELANE elastase, neutrophil expressed ISO RGD PMID:24054721 RGD:10450528 NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027
JBrowse link
G GP91-PHOX NADPH oxidase heavy chain subunit ISO RGD PMID:24054721 RGD:10450528 NCBI chr  X:33,654,656...33,678,346
Ensembl chr  X:33,642,015...33,680,580
JBrowse link
G IL17A interleukin 17A severity ISO RGD PMID:21807912 RGD:8698654 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:SNP:exon:rs5030737(human) RGD PMID:17311505 RGD:8693758 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G 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 chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
JBrowse link
G S100B S100 calcium binding protein B ISO RGD PMID:21423669 RGD:5508765
G TLR2 toll like receptor 2 ISO RGD PMID:16113258 RGD:8553022 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:18275280 RGD:5130863 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
Invasive Pulmonary Aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 chemokine (C-C motif) ligand 2 treatment ISO RGD PMID:12917249 RGD:11528529 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CD209 CD209 molecule susceptibility ISO DNA:SNPs:3'utr,intron:multiple RGD PMID:22384201 RGD:39938996 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,390...71,397,969
JBrowse link
G FGF2 fibroblast growth factor 2 treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G IL1A interleukin 1 alpha ISO DNA:polymorphism, haplotype:promoter:-889C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
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 NCBI chr13:34,928,455...34,948,250
Ensembl chr13:34,915,855...34,948,229
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO DNA:polymorphism, haplotype: :-511C>T (human) RGD PMID:18484169 RGD:4142867
G MBL2 mannose binding lectin 2 treatment ISO RGD PMID:17335555 RGD:8693746 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G PTX3 pentraxin 3 susceptibility
no_association
ISO protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
DNA:SNP:intron:rs1840680 (human)
protein:increased expression:plasma
DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527
RGD PMID:29020397 PMID:29964232 RGD:38501098 RGD:38508894 NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
JBrowse link
G VEGFA vascular endothelial growth factor A treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
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 chr 4:34,221,368...34,257,261
Ensembl chr 4:34,209,008...34,257,136
JBrowse link
G C3 complement C3 ISO RGD PMID:17169032 RGD:5129525 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:20618689 RGD:4891428 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:10968950 RGD:8547797 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CSF2 colony stimulating factor 2 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:19487471 RGD:5131475 NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155
JBrowse link
G IL23A interleukin 23 subunit alpha ISO RGD PMID:17403873 RGD:39458043 NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
JBrowse link
G IL33 interleukin 33 treatment ISO RGD PMID:21220696 RGD:40400892 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,435...215,941,840
JBrowse link
G MUC1 mucin 1, cell surface associated ISO protein:increased expression:serum RGD PMID:9617869 RGD:5131424 NCBI chr 4:94,626,317...94,631,194 JBrowse link
G NOS2 nitric oxide synthase 2 ISO mRNA:increased expression:alveolar macrophage
protein:decreased dimerization:alveolar macrophage
RGD PMID:20377877 PMID:20558778 RGD:4144112 RGD:4891486 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
G SFTPA1 surfactant protein A1 ISO protein:increased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,107,675
JBrowse link
G SFTPB surfactant protein B ISO protein:decreased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr 3:59,101,940...59,113,442
Ensembl chr 3:59,101,952...59,111,834
JBrowse link
G SFTPC surfactant protein C ISO protein:decreased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095
JBrowse link
G SFTPD surfactant protein D ISO protein:increased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr14:82,051,400...82,069,258
Ensembl chr14:82,051,451...82,067,976
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:18400546 RGD:4145341 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
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 chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13489
    disease by infectious agent 1747
      Bacterial Infections and Mycoses 672
        fungal infectious disease 92
          Fungal Lung Diseases 51
            Aspergillus Niger Infection 0
            adiaspiromycosis 0
            aspergillosis + 36
            blastomycosis 0
            invasive aspergillosis + 28
            pneumocystosis 14
Path 2
Term Annotations click to browse term
  disease 13489
    disease of anatomical entity 13152
      respiratory system disease 2602
        lower respiratory tract disease 1633
          lung disease 1599
            Fungal Lung Diseases 51
              Aspergillus Niger Infection 0
              adiaspiromycosis 0
              aspergillosis + 36
              blastomycosis 0
              invasive aspergillosis + 28
              pneumocystosis 14
paths to the root