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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 Ccl7 chemokine (C-C motif) ligand 7 IEP RGD PMID:20045013 RGD:5129686 NCBI chr11:82,045,712...82,047,525
Ensembl chr11:82,045,712...82,047,525
JBrowse link
G Gata2 GATA binding protein 2 ISO associated with Pneumocystis Infections RGD PMID:16774119 RGD:9587813 NCBI chr 6:88,193,891...88,207,032
Ensembl chr 6:88,193,891...88,207,032
JBrowse link
G Hc hemolytic complement IAGP RGD PMID:2612053 RGD:5130160 NCBI chr 2:34,983,329...35,068,506
Ensembl chr 2:34,983,331...35,061,438
JBrowse link
G Il13 interleukin 13 IEP
ISO
protein:increased expression:lung RGD PMID:19752036, PMID:16544260 RGD:4145474, RGD:4145506 NCBI chr11:53,631,323...53,634,702
Ensembl chr11:53,631,324...53,634,702
JBrowse link
G Il33 interleukin 33 IEP protein:increased expression:lung RGD PMID:25746970 RGD:39938968 NCBI chr19:29,925,113...29,960,718
Ensembl chr19:29,925,114...29,960,718
JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO protein:decreased expression:lung RGD PMID:10639453 RGD:4891455 NCBI chr11:78,920,787...78,960,226
Ensembl chr11:78,920,787...78,960,254
JBrowse link
G Sftpa1 surfactant associated protein A1 susceptibility IMP RGD PMID:20413160 RGD:4143489 NCBI chr14:41,131,788...41,136,373
Ensembl chr14:41,131,782...41,136,452
JBrowse link
G Sftpd surfactant associated protein D susceptibility IMP
ISO
RGD PMID:20413160, PMID:20413160 RGD:4143489, RGD:4143489 NCBI chr14:41,172,212...41,185,198
Ensembl chr14:41,172,214...41,185,149
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:lung RGD PMID:16544260 RGD:4145506 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
allergic bronchopulmonary aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl17 chemokine (C-C motif) ligand 17 ISO associated with Cystic Fibrosis RGD PMID:17898016 RGD:4145612 NCBI chr 8:94,809,380...94,812,038
Ensembl chr 8:94,810,453...94,812,036
JBrowse link
G Ccr1 chemokine (C-C motif) receptor 1 IMP RGD PMID:15951834 RGD:5688155 NCBI chr 9:123,962,126...123,968,692
Ensembl chr 9:123,962,124...123,968,692
JBrowse link
G Ccr2 chemokine (C-C motif) receptor 2 IMP RGD PMID:10946288 RGD:8661731 NCBI chr 9:124,101,918...124,109,140
Ensembl chr 9:124,101,950...124,113,557
JBrowse link
G Cftr cystic fibrosis transmembrane conductance regulator ISO DNA:mutations: : RGD PMID:11243954 RGD:4140482 NCBI chr 6:18,170,687...18,322,770
Ensembl chr 6:18,170,687...18,322,768
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human) RGD PMID:23278646 RGD:36049760 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO associated with cystic fibrosis; DNA:polymorphisms: : RGD PMID:23278646 RGD:36049760 NCBI chr17:34,305,867...34,316,674
Ensembl chr17:34,305,867...34,316,674
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP RGD PMID:7743671 RGD:8547590 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Il1a interleukin 1 alpha IEP RGD PMID:8699818 RGD:7794730 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility ISO Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human)
DNA:SNP:intron:1011G>A(human)
RGD PMID:11474427, PMID:16487239 RGD:4889577, RGD:8693711 NCBI chr19:30,232,906...30,239,687
Ensembl chr19:30,232,942...30,239,687
JBrowse link
G Tlr9 toll-like receptor 9 susceptibility ISO
IMP
DNA:SNP:promoter:g.-1237T>C rs5743836 (human) RGD PMID:18275280, PMID:18936185 RGD:5130863, RGD:5130858 NCBI chr 9:106,222,598...106,226,876
Ensembl chr 9:106,222,598...106,226,883
JBrowse link
G Tnf tumor necrosis factor IEP RGD PMID:8699818 RGD:7794730 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a susceptibility ISO DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human) RGD PMID:20646338 RGD:5131174 NCBI chr 6:125,349,723...125,362,483
Ensembl chr 6:125,349,362...125,362,484
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 chr17:34,597,460...34,600,937
Ensembl chr17:34,597,862...34,600,936
JBrowse link
G Ccl19 chemokine (C-C motif) ligand 19 IEP associated with Neutropenia;mRNA:increased expression:lung RGD PMID:19783686 RGD:5130908 NCBI chr 4:42,754,525...42,756,365
Ensembl chr 4:42,754,525...42,756,577
JBrowse link
G Ccr7 chemokine (C-C motif) receptor 7 IMP associated with Neutropenia RGD PMID:19783686 RGD:5130908 NCBI chr11:99,144,199...99,155,077
Ensembl chr11:99,144,196...99,155,077
JBrowse link
G Cd209d CD209d antigen ISO RGD PMID:21381282 RGD:5131183 NCBI chr 8:3,871,824...3,878,548
Ensembl chr 8:3,871,824...3,878,555
JBrowse link
G Cftr cystic fibrosis transmembrane conductance regulator severity IMP RGD PMID:22135344 RGD:35673332 NCBI chr 6:18,170,687...18,322,770
Ensembl chr 6:18,170,687...18,322,768
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
ClinVar
CTD
OMIM
PMID:29489751 NCBI chr 6:129,426,684...129,452,000
Ensembl chr 6:129,424,772...129,452,000
JBrowse link
G Clec7a C-type lectin domain family 7, member a susceptibility ISO ClinVar Annotator: match by term: Aspergillosis, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:19864674 PMID:20807886 PMID:24033266 NCBI chr 6:129,461,591...129,472,785
Ensembl chr 6:129,461,591...129,472,779
JBrowse link
G Crp C-reactive protein, pentraxin-related treatment ISO RGD PMID:20879853 RGD:9495929 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Il15 interleukin 15 ISO DNA:polymorphism (human) RGD PMID:16893395 RGD:4981337 NCBI chr 8:82,331,624...82,403,252
Ensembl chr 8:82,331,632...82,403,222
JBrowse link
G Mbl1 mannose-binding lectin (protein A) 1 susceptibility IMP RGD PMID:20064561 RGD:8694071 NCBI chr14:41,151,456...41,163,904
Ensembl chr14:41,151,458...41,159,601
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility IMP RGD PMID:20064561 RGD:8694071 NCBI chr19:30,232,906...30,239,687
Ensembl chr19:30,232,942...30,239,687
JBrowse link
G S100b S100 protein, beta polypeptide, neural ISO DNA:SNP: :427C>T (human) RGD PMID:22114731 RGD:8695981 NCBI chr10:76,253,836...76,261,319
Ensembl chr10:76,253,853...76,261,159
JBrowse link
G Tlr1 toll-like receptor 1 susceptibility ISO DNA:SNPs: :p.R80T, p.N248S (human) RGD PMID:16461792 RGD:4889535 NCBI chr 5:64,924,680...64,933,600
Ensembl chr 5:64,924,679...64,933,563
JBrowse link
G Tlr2 toll-like receptor 2 IEP mRNA:increased expression:lung RGD PMID:19781388 RGD:4145322 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Tlr6 toll-like receptor 6 susceptibility ISO DNA:SNP: :p.S249P (human) RGD PMID:16461792 RGD:4889535 NCBI chr 5:64,953,092...64,970,942
Ensembl chr 5:64,952,031...64,960,097
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 IMP RGD PMID:21423669 RGD:5508765 NCBI chr17:34,597,460...34,600,937
Ensembl chr17:34,597,862...34,600,936
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 severity IMP RGD PMID:11160230 RGD:11528533 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Ccl20 chemokine (C-C motif) ligand 20 IEP protein:increased expression:lung RGD PMID:20926800 RGD:7483599 NCBI chr 1:83,116,766...83,119,167
Ensembl chr 1:83,116,766...83,119,167
JBrowse link
G Ccr6 chemokine (C-C motif) receptor 6 disease_progression IMP RGD PMID:17379855 RGD:7483617 NCBI chr17:8,236,041...8,258,519
Ensembl chr17:8,236,043...8,257,141
JBrowse link
G Cxcr3 chemokine (C-X-C motif) receptor 3 ISO RGD PMID:17298426 RGD:5135501 NCBI chr  X:101,731,535...101,734,147
Ensembl chr  X:101,731,535...101,734,269
JBrowse link
G Cybb cytochrome b-245, beta polypeptide IMP RGD PMID:24054721 RGD:10450528 NCBI chr  X:9,435,252...9,487,766
Ensembl chr  X:9,435,252...9,487,771
JBrowse link
G Cyp2c38 cytochrome P450, family 2, subfamily c, polypeptide 38 treatment ISO DNA:polymorphisms:cds: RGD PMID:26861072 RGD:124713410 NCBI chr19:39,389,556...39,463,103
Ensembl chr19:39,389,556...39,463,075
JBrowse link
G Elane elastase, neutrophil expressed IMP RGD PMID:24054721 RGD:10450528 NCBI chr10:79,886,312...79,888,216
Ensembl chr10:79,886,247...79,888,215
JBrowse link
G Il17a interleukin 17A severity IMP RGD PMID:21807912 RGD:8698654 NCBI chr 1:20,730,905...20,734,496
Ensembl chr 1:20,730,905...20,734,496
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 ISO DNA:SNP:exon:rs5030737(human) RGD PMID:17311505 RGD:8693758 NCBI chr19:30,232,906...30,239,687
Ensembl chr19:30,232,942...30,239,687
JBrowse link
G Ptx3 pentraxin related gene severity ISO DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527
protein:increased expression:bronchoalveolar lavage fluid (human)
RGD PMID:30275011, PMID:28487045 RGD:38501097, RGD:38508892 NCBI chr 3:66,219,887...66,225,806
Ensembl chr 3:66,219,910...66,225,805
JBrowse link
G S100b S100 protein, beta polypeptide, neural IMP RGD PMID:21423669 RGD:5508765 NCBI chr10:76,253,836...76,261,319
Ensembl chr10:76,253,853...76,261,159
JBrowse link
G Tlr2 toll-like receptor 2 IMP RGD PMID:16113258 RGD:8553022 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:18275280 RGD:5130863 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
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 chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Fgf2 fibroblast growth factor 2 treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr 3:37,348,477...37,410,106
Ensembl chr 3:37,348,346...37,410,108
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:polymorphism, haplotype:promoter:-889C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1b interleukin 1 beta ISO DNA:polymorphism, haplotype: :-511C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
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 chr14:30,886,476...30,901,986
Ensembl chr14:30,886,476...30,902,353
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 treatment ISO RGD PMID:17335555 RGD:8693746 NCBI chr19:30,232,906...30,239,687
Ensembl chr19:30,232,942...30,239,687
JBrowse link
G Ptx3 pentraxin related gene susceptibility
no_association
ISO DNA:SNP:intron:rs1840680 (human)
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
protein:increased expression:plasma
DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527
RGD PMID:29020397, PMID:29964232, PMID:29020397, PMID:29020397 RGD:38501098, RGD:38508894, RGD:38501098, RGD:38501098 NCBI chr 3:66,219,887...66,225,806
Ensembl chr 3:66,219,910...66,225,805
JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
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 chr15:38,487,430...38,519,294
Ensembl chr15:38,487,427...38,519,266
JBrowse link
G C3 complement component 3 ISO RGD PMID:17169032 RGD:5129525 NCBI chr17:57,203,967...57,228,136
Ensembl chr17:57,203,970...57,228,136
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:20618689 RGD:4891428 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Cd40 CD40 antigen treatment IDA RGD PMID:10968950 RGD:8547797 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948
JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:19487471 RGD:5131475 NCBI chr11:54,247,270...54,249,899
Ensembl chr11:54,247,271...54,249,667
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO RGD PMID:20377877 RGD:4144112 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G Il23a interleukin 23, alpha subunit p19 IMP RGD PMID:17403873 RGD:39458043 NCBI chr10:128,296,140...128,298,084
Ensembl chr10:128,296,139...128,298,752
JBrowse link
G Il33 interleukin 33 treatment IDA RGD PMID:21220696 RGD:40400892 NCBI chr19:29,925,113...29,960,718
Ensembl chr19:29,925,114...29,960,718
JBrowse link
G Muc1 mucin 1, transmembrane ISO protein:increased expression:serum RGD PMID:9617869 RGD:5131424 NCBI chr 3:89,229,056...89,233,381
Ensembl chr 3:89,229,057...89,233,381
JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO protein:decreased dimerization:alveolar macrophage
mRNA:increased expression:alveolar macrophage
RGD PMID:20558778, PMID:20377877 RGD:4891486, RGD:4144112 NCBI chr11:78,920,787...78,960,226
Ensembl chr11:78,920,787...78,960,254
JBrowse link
G Sftpa1 surfactant associated protein A1 IEP protein:increased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr14:41,131,788...41,136,373
Ensembl chr14:41,131,782...41,136,452
JBrowse link
G Sftpb surfactant associated protein B IEP protein:decreased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr 6:72,304,610...72,314,373
Ensembl chr 6:72,304,610...72,314,371
JBrowse link
G Sftpc surfactant associated protein C IEP protein:decreased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr14:70,520,941...70,524,081
Ensembl chr14:70,520,949...70,524,081
JBrowse link
G Sftpd surfactant associated protein D IEP protein:increased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr14:41,172,212...41,185,198
Ensembl chr14:41,172,214...41,185,149
JBrowse link
G Tlr2 toll-like receptor 2 IMP RGD PMID:18400546 RGD:4145341 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
pulmonary aspergilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptx3 pentraxin related gene ISO protein:increased expression:bronchoalveolar lavage fluid, plasma (human) RGD PMID:29964232 RGD:38508894 NCBI chr 3:66,219,887...66,225,806
Ensembl chr 3:66,219,910...66,225,805
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14437
    disease by infectious agent 1886
      Bacterial Infections and Mycoses 745
        fungal infectious disease 135
          Fungal Lung Diseases 55
            Aspergillus Niger Infection 0
            adiaspiromycosis 0
            aspergillosis + 39
            blastomycosis 0
            invasive aspergillosis + 29
            pneumocystosis 15
Path 2
Term Annotations click to browse term
  disease 14437
    disease of anatomical entity 14032
      respiratory system disease 2787
        lower respiratory tract disease 1770
          lung disease 1728
            Fungal Lung Diseases 55
              Aspergillus Niger Infection 0
              adiaspiromycosis 0
              aspergillosis + 39
              blastomycosis 0
              invasive aspergillosis + 29
              pneumocystosis 15
paths to the root