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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:aspergillosis
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Accession:DOID:13564 term browser browse the term
Definition:An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. (DO)
Synonyms:exact_synonym: ASPERGILLOSIS, SUSCEPTIBILITY TO;   Aspergilloses;   infection due to Aspergillus
 primary_id: MESH:D001228
 alt_id: OMIM:614079
 xref: GARD:5856;   ICD10CM:B44;   ICD9CM:117.3;   NCI:C2886
For additional species annotation, visit the Alliance of Genome Resources.


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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 chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO associated with Neutropenia;mRNA:increased expression:lung RGD PMID:19783686 RGD:5130908 NCBI chrNW_004955472:1,444,598...1,446,488
Ensembl chrNW_004955472:1,444,316...1,446,490
JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO associated with Neutropenia RGD PMID:19783686 RGD:5130908 NCBI chrNW_004955451:15,086,119...15,101,862
Ensembl chrNW_004955451:15,086,119...15,095,561
JBrowse link
G Cftr CF transmembrane conductance regulator severity ISO RGD PMID:22135344 RGD:35673332 NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382
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 chrNW_004955413:7,742,753...7,783,299
Ensembl chrNW_004955413:7,752,111...7,782,452
JBrowse link
G Il15 interleukin 15 ISO DNA:polymorphism (human) RGD PMID:16893395 RGD:4981337 NCBI chrNW_004955471:1,496,352...1,583,919
Ensembl chrNW_004955471:1,497,483...1,511,469
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO RGD PMID:20064561 RGD:8694071 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
JBrowse link
G S100b S100 calcium binding protein B ISO DNA:SNP: :427C>T (human) RGD PMID:22114731 RGD:8695981 NCBI chrNW_004955407:42,972,584...42,980,510
Ensembl chrNW_004955407:42,972,584...42,980,510
JBrowse link
G Tlr1 toll like receptor 1 susceptibility ISO DNA:SNPs: :p.R80T, p.N248S (human) RGD PMID:16461792 RGD:4889535 NCBI chrNW_004955443:8,442,419...8,450,318
Ensembl chrNW_004955443:8,447,956...8,450,382
JBrowse link
G Tlr2 toll like receptor 2 ISO mRNA:increased expression:lung RGD PMID:19781388 RGD:4145322 NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
JBrowse link
G Tlr6 toll like receptor 6 susceptibility ISO DNA:SNP: :p.S249P (human) RGD PMID:16461792 RGD:4889535 NCBI chrNW_004955443:8,401,461...8,427,175
Ensembl chrNW_004955443:8,422,534...8,424,942
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 chrNW_004955433:15,052,616...15,054,732
Ensembl chrNW_004955433:15,053,061...15,054,572
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:10946288 RGD:8661731 NCBI chrNW_004955420:25,641,184...25,664,413 JBrowse link
G Cftr CF transmembrane conductance regulator ISO DNA:mutations: : RGD PMID:11243954 RGD:4140482 NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:7743671 RGD:8547590 NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:8699818 RGD:7794730 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
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 chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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 chrNW_004955532:3,828,645...3,832,699 JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:8699818 RGD:7794730 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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 chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
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 chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO protein:increased expression:lung RGD PMID:20926800 RGD:7483599 NCBI chrNW_004955453:6,846,625...6,850,007
Ensembl chrNW_004955453:6,846,549...6,850,031
JBrowse link
G Ccr6 C-C motif chemokine receptor 6 disease_progression ISO RGD PMID:17379855 RGD:7483617 NCBI chrNW_004955439:14,921,524...14,949,493
Ensembl chrNW_004955439:14,920,601...14,924,191
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:17298426 RGD:5135501 NCBI chrNW_004955475:11,148,928...11,152,313
Ensembl chrNW_004955475:11,148,879...11,152,596
JBrowse link
G Il17a interleukin 17A severity ISO RGD PMID:21807912 RGD:8698654 NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
JBrowse link
G LOC102012042 cytochrome b-245 heavy chain ISO RGD PMID:24054721 RGD:10450528 NCBI chrNW_004955587:781,533...818,149
Ensembl chrNW_004955587:781,388...819,912
JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:SNP:exon:rs5030737(human) RGD PMID:17311505 RGD:8693758 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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 chrNW_004955448:8,366,795...8,373,010
Ensembl chrNW_004955448:8,366,925...8,372,411
JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:21423669 RGD:5508765 NCBI chrNW_004955407:42,972,584...42,980,510
Ensembl chrNW_004955407:42,972,584...42,980,510
JBrowse link
G Tlr2 toll like receptor 2 ISO RGD PMID:16113258 RGD:8553022 NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
JBrowse link
G Tlr4 toll like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:18275280 RGD:5130863 NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
JBrowse link
Invasive Pulmonary Aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf2 fibroblast growth factor 2 treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:polymorphism, haplotype:promoter:-889C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
JBrowse link
G Il1b interleukin 1 beta ISO DNA:polymorphism, haplotype: :-511C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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 chrNW_004955430:2,772,064...2,787,912
Ensembl chrNW_004955430:2,770,373...2,789,131
JBrowse link
G Mbl2 mannose binding lectin 2 treatment ISO RGD PMID:17335555 RGD:8693746 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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 chrNW_004955448:8,366,795...8,373,010
Ensembl chrNW_004955448:8,366,925...8,372,411
JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chrNW_004955437:9,527,445...9,541,908 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 chrNW_004955448:8,366,795...8,373,010
Ensembl chrNW_004955448:8,366,925...8,372,411
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12691
    disease of anatomical entity 12366
      immune system disease 2598
        allergic disease 484
          aspergillosis 29
            Aspergillus Niger Infection 0
            invasive aspergillosis + 23
            neuroaspergillosis 0
Path 2
Term Annotations click to browse term
  disease 12691
    disease of anatomical entity 12366
      nervous system disease 10316
        sensory system disease 4846
          skin disease 2542
            Infectious Skin Diseases 212
              dermatomycosis 74
                Hyalohyphomycosis 29
                  aspergillosis 29
                    Aspergillus Niger Infection 0
                    invasive aspergillosis + 23
                    neuroaspergillosis 0
paths to the root