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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:cutaneous mycosis
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Accession:DOID:0050134 term browser browse the term
Definition:A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions. (DO)
For additional species annotation, visit the Alliance of Genome Resources.


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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_004936475:9,475,013...9,476,326 JBrowse link
G Cftr CF transmembrane conductance regulator ISO DNA:mutations: : RGD PMID:11243954 RGD:4140482 NCBI chrNW_004936589:1,565,933...1,719,208 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:7743671 RGD:8547590 NCBI chrNW_004936659:616,570...627,172 JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:8699818 RGD:7794730 NCBI chrNW_004936783:1,210,715...1,218,315 JBrowse link
G LOC101964209 C-C chemokine receptor type 1 ISO RGD PMID:15951834 RGD:5688155 NCBI chrNW_004936596:177,774...183,186 JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:8699818 RGD:7794730 NCBI chrNW_004936727:1,936,066...1,937,766 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_004936709:1,407,327...1,421,448 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 chrNW_004936727:1,418,342...1,422,005 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_004936524:2,765,271...2,767,259 JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO associated with Neutropenia RGD PMID:19783686 RGD:5130908 NCBI chrNW_004936490:15,575,764...15,579,766 JBrowse link
G Cftr CF transmembrane conductance regulator severity ISO RGD PMID:22135344 RGD:35673332 NCBI chrNW_004936589:1,565,933...1,719,208 JBrowse link
G Clec1a C-type lectin domain family 1 member A susceptibility ISO ClinVar Annotator: match by term: Aspergillosis, susceptibility to OMIM
ClinVar
PMID:29489751 NCBI chrNW_004936902:458,097...480,606 JBrowse link
G Clec7a C-type lectin domain containing 7A susceptibility ISO ClinVar Annotator: match by term: Aspergillosis, susceptibility to OMIM
ClinVar
PMID:19864674 PMID:20807886 PMID:24033266 NCBI chrNW_004936902:436,224...446,435 JBrowse link
G Crp C-reactive protein treatment ISO RGD PMID:20879853 RGD:9495929 NCBI chrNW_004936740:885,855...888,854 JBrowse link
G Il15 interleukin 15 ISO DNA:polymorphism (human) RGD PMID:16893395 RGD:4981337 NCBI chrNW_004936535:6,344,348...6,358,803 JBrowse link
G Tlr1 toll like receptor 1 susceptibility ISO DNA:SNPs: :p.R80T, p.N248S (human) RGD PMID:16461792 RGD:4889535 NCBI chrNW_004936482:6,582,430...6,591,128 JBrowse link
G Tlr2 toll like receptor 2 ISO mRNA:increased expression:lung RGD PMID:19781388 RGD:4145322 NCBI chrNW_004936576:522,234...531,660 JBrowse link
G Tlr6 toll like receptor 6 susceptibility ISO DNA:SNP: :p.S249P (human) RGD PMID:16461792 RGD:4889535 NCBI chrNW_004936482:6,607,723...6,610,161 JBrowse link
Candidiasis, Familial, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clec7a C-type lectin domain containing 7A ISO ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis OMIM
ClinVar
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 NCBI chrNW_004936902:436,224...446,435 JBrowse link
Candidiasis, Familial, 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17f interleukin 17F ISO ClinVar Annotator: match by term: Candidiasis, familial, 6 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21350122 PMID:24033266 PMID:25741868 More... NCBI chrNW_004936476:8,579,282...8,580,916 JBrowse link
Candidiasis, Familial, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traf3ip2 TRAF3 interacting protein 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 8 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20953186 PMID:20953188 PMID:22513239 More... NCBI chrNW_004936679:308,508...348,561 JBrowse link
Candidiasis, Familial, 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chrNW_004936602:3,147,773...3,155,739 JBrowse link
G Cidec cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chrNW_004936602:3,312,146...3,323,009 JBrowse link
G Creld1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936602:3,258,029...3,267,231 JBrowse link
G Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chrNW_004936602:3,220,545...3,239,913 JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chrNW_004936602:3,162,177...3,220,468 JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chrNW_004936602:3,160,505...3,161,374 JBrowse link
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25918342 PMID:28492532 NCBI chrNW_004936602:3,267,397...3,281,985 JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chrNW_004936602:3,282,792...3,294,396 JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chrNW_004936602:3,300,685...3,303,509 JBrowse link
G Prrt3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chrNW_004936602:3,252,655...3,257,400 JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chrNW_004936602:3,135,790...3,140,622 JBrowse link
chromoblastomycosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma treatment ISO RGD PMID:29481557 RGD:14975102 NCBI chrNW_004936545:6,139,130...6,144,543 JBrowse link
chronic mucocutaneous candidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17ra interleukin 17 receptor A ISO ClinVar Annotator: match by term: Familial Candidiasis, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936807:143,165...165,820 JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human) RGD PMID:31784499 RGD:150340677 NCBI chrNW_004936728:1,775,746...1,893,895 JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis ClinVar PMID:21714643 PMID:21727188 PMID:23541320 PMID:24033266 PMID:24343863 More... NCBI chrNW_004936506:7,196,860...7,235,854 JBrowse link
eumycotic mycetoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Comt catechol-O-methyltransferase severity ISO DNA:missense mutation:cds: (rs4680) (human) RGD PMID:20184498 RGD:8662334 NCBI chrNW_004936619:3,847,059...3,883,866 JBrowse link
G LOC101964975 interleukin-8 ISO DNA:SNP:promoter:g.-251T>A (human) RGD PMID:17709521 RGD:150523787 NCBI chrNW_004936598:1,779,471...1,781,353 JBrowse link
G Tlr2 toll like receptor 2 ISO mRNA:increased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chrNW_004936576:522,234...531,660 JBrowse link
G Tlr4 toll like receptor 4 ISO mRNA:decreased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chrNW_004936487:6,519,140...6,532,018 JBrowse link
Immunodeficiency 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:922,978...941,996 JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:1,185,204...1,198,972 JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:1,065,901...1,075,493 JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:985,318...988,600 JBrowse link
G Card9 caspase recruitment domain family member 9 susceptibility ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS OMIM
ClinVar
PMID:9536098 PMID:9835960 PMID:16199547 PMID:17576681 PMID:19864672 More... NCBI chrNW_004936669:1,428,208...1,438,012 JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:947,743...950,539 JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:1,159,711...1,165,667 JBrowse link
G Edf1 endothelial differentiation related factor 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:1,051,137...1,055,168 JBrowse link
G Egfl7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:1,199,416...1,211,367 JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:901,192...906,765 JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:1,396,733...1,403,927 JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:988,615...993,053 JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:914,520...920,481 JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:1,377,005...1,385,287 JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:1,147,791...1,150,313 JBrowse link
G Lcn15 lipocalin 15 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:1,125,407...1,129,016 JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:1,143,840...1,146,461 JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:1,131,292...1,134,313 JBrowse link
G Lcnl1 lipocalin like 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:957,801...960,114 JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:1,055,181...1,063,638 JBrowse link
G Man1b1 mannosidase alpha class 1B member 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:855,349...867,763 JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:1,292,016...1,334,061 JBrowse link
G Npdc1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:908,261...913,964 JBrowse link
G Paxx PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:951,256...952,804 JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:1,065,901...1,067,214 JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:1,385,010...1,395,715 JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:961,246...964,584 JBrowse link
G Rabl6 RAB, member RAS oncogene family like 6 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:1,075,556...1,102,404 JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:888,911...893,981 JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:1,344,019...1,375,483 JBrowse link
G Snapc4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:1,405,306...1,428,222 JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:1,102,653...1,115,411 JBrowse link
G Traf2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:1,004,891...1,034,913 JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chrNW_004936669:878,938...884,469 JBrowse link
immunodeficiency 31C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il21r interleukin 21 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 31C ClinVar PMID:25741868 NCBI chrNW_004936501:11,100,170...11,112,112 JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | ClinVar Annotator: match by term: Immunodeficiency 31C OMIM
ClinVar
PMID:21714643 PMID:21727188 PMID:22195034 PMID:22730530 PMID:22847544 More... NCBI chrNW_004936506:7,196,860...7,235,854 JBrowse link
immunodeficiency 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17ra interleukin 17 receptor A ISO ClinVar Annotator: match by term: Immunodeficiency 51 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 More... NCBI chrNW_004936807:143,165...165,820 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_004936727:1,418,342...1,422,005 JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO protein:increased expression:lung RGD PMID:20926800 RGD:7483599 NCBI chrNW_004936525:8,238,128...8,240,974 JBrowse link
G Ccr6 C-C motif chemokine receptor 6 disease_progression ISO RGD PMID:17379855 RGD:7483617 NCBI chrNW_004936489:16,669,297...16,689,451 JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:17298426 RGD:5135501 NCBI chrNW_004936762:66,636...69,694 JBrowse link
G Il17a interleukin 17A severity ISO RGD PMID:21807912 RGD:8698654 NCBI chrNW_004936476:8,621,860...8,625,008 JBrowse link
G LOC101966992 cytochrome b-245 heavy chain ISO RGD PMID:24054721 RGD:10450528 NCBI chrNW_004936502:4,631,750...4,676,686 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 chrNW_004936519:4,303,549...4,309,143 JBrowse link
G Tlr2 toll like receptor 2 ISO RGD PMID:16113258 RGD:8553022 NCBI chrNW_004936576:522,234...531,660 JBrowse link
G Tlr4 toll like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:18275280 RGD:5130863 NCBI chrNW_004936487:6,519,140...6,532,018 JBrowse link
Invasive Pulmonary Aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO DNA:polymorphism, haplotype:promoter:-889C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chrNW_004936783:1,210,715...1,218,315 JBrowse link
G Il1b interleukin 1 beta ISO DNA:polymorphism, haplotype: :-511C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chrNW_004936783:1,251,678...1,256,807 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_004936473:3,573,282...3,589,345 JBrowse link
G Ptx3 pentraxin 3 no_association
susceptibility
ISO protein:increased expression:plasma
DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
DNA:SNP:intron:rs1840680 (human)
RGD PMID:29020397 PMID:29964232 RGD:38501098 RGD:38508894 NCBI chrNW_004936519:4,303,549...4,309,143 JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chrNW_004936476:16,245,134...16,261,180 JBrowse link
MUCOCUTANEOUS ULCERATION, CHRONIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rela RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,800,142...3,810,583 JBrowse link
paracoccidioidomycosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd28 CD28 molecule ISO RGD PMID:20713624 RGD:5131616 NCBI chrNW_004936631:335,411...363,407 JBrowse link
G Cfb complement factor B ISO RGD PMID:7921333 RGD:7421526 NCBI chrNW_004936727:1,595,872...1,602,274 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:17003484 RGD:8547589 NCBI chrNW_004936659:616,570...627,172 JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse) RGD PMID:27992577 RGD:39939072 NCBI chrNW_004936843:658,058...672,662 JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chrNW_004936612:2,306,963...2,325,086 JBrowse link
G Il1b interleukin 1 beta treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Il1rl1 interleukin 1 receptor like 1 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chrNW_004936713:1,020,969...1,035,012 JBrowse link
G Il33 interleukin 33 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chrNW_004936539:763,755...791,461 JBrowse link
G Il37 interleukin 37 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chrNW_004936783:1,307,560...1,312,355 JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:19765107 RGD:8657058 NCBI chrNW_004936475:7,801,356...7,825,831 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:19765107 RGD:8657058 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A(human) RGD PMID:17145373 RGD:7401182 NCBI chrNW_004936727:1,936,066...1,937,766 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_004936519:4,303,549...4,309,143 JBrowse link
sporotrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO protein:altered activity:serum,lymphocyte RGD PMID:22169893 RGD:152995407 NCBI chrNW_004936530:2,217,713...2,224,070 JBrowse link
G Tlr4 toll like receptor 4 ISO RGD PMID:19740386 RGD:7794681 NCBI chrNW_004936487:6,519,140...6,532,018 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13774
    disease of anatomical entity 13507
      integumentary system disease 3399
        cutaneous mycosis 92
          adiaspiromycosis 0
          dermatomycosis + 83
          dermatophytosis + 0
          paracoccidioidomycosis + 12
          phaeohyphomycosis + 0
Path 2
Term Annotations click to browse term
  disease 13774
    disease by infectious agent 1893
      Bacterial Infections and Mycoses 870
        fungal infectious disease 125
          cutaneous mycosis 92
            adiaspiromycosis 0
            dermatomycosis + 83
            dermatophytosis + 0
            paracoccidioidomycosis + 12
            phaeohyphomycosis + 0
paths to the root