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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:Invasive Fungal Infections
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Accession:DOID:9006058 term browser browse the term
Definition:Mycoses which manifest as infections of deep tissue or blood.
Synonyms:exact_synonym: Invasive Fungal Infection;   Invasive Mycose;   Invasive Mycoses
 primary_id: MESH:D000072742;   RDO:0016126
For additional species annotation, visit the Alliance of Genome Resources.


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Invasive Fungal Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2c38 cytochrome P450, family 2, subfamily c, polypeptide 38 treatment ISO DNA:polymorphisms::
DNA:polymorphism:: CYP2C19*17(rs12248560)(human)
RGD PMID:25239277, PMID:31222084 RGD:124713540, RGD:124713541 NCBI chr19:39,389,556...39,463,103
Ensembl chr19:39,389,556...39,463,075
JBrowse link
G Ptx3 pentraxin related gene severity ISO DNA:SNPs:intron:rs2305619, rs1840680 (human) RGD PMID:30275011 RGD:38501097 NCBI chr 3:66,219,887...66,225,806
Ensembl chr 3:66,219,910...66,225,805
JBrowse link
Fungemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd274 CD274 antigen treatment IMP RGD PMID:23663657 RGD:40818234 NCBI chr19:29,362,107...29,388,095
Ensembl chr19:29,367,455...29,388,095
JBrowse link
G Pdcd1 programmed cell death 1 treatment IMP
IEP
protein:increased expression:CD4 Tcell, CD8 Tcell: RGD PMID:23663657, PMID:23663657 RGD:40818234, RGD:40818234 NCBI chr 1:94,038,305...94,052,553
Ensembl chr 1:94,038,305...94,052,553
JBrowse link
Invasive Candidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgam integrin alpha M IEP protein: increased expression: kidney RGD PMID:21063074 RGD:7207265 NCBI chr 7:128,062,640...128,118,491
Ensembl chr 7:128,062,640...128,118,491
JBrowse link
G Ptx3 pentraxin related gene severity ISO associated with hematologic cancer;DNA:SNP:intron:rs1840680 RGD PMID:30275011 RGD:38501097 NCBI chr 3:66,219,887...66,225,806
Ensembl chr 3:66,219,910...66,225,805
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14272
    disease by infectious agent 1844
      Bacterial Infections and Mycoses 702
        fungal infectious disease 96
          Invasive Fungal Infections 12
            Fungemia + 2
            Invasive Candidiasis + 2
            Invasive Pulmonary Aspergillosis 8
            neuroaspergillosis 0
paths to the root