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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 chemokine (C-C motif) ligand 17 ISO associated with Cystic Fibrosis RGD PMID:17898016 RGD:4145612 NCBI chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664
JBrowse link
G Ccr1 chemokine (C-C motif) receptor 1 IMP RGD PMID:15951834 RGD:5688155 NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
JBrowse link
G Ccr2 chemokine (C-C motif) receptor 2 IMP RGD PMID:10946288 RGD:8661731 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
JBrowse link
G Cftr cystic fibrosis transmembrane conductance regulator ISO DNA:mutations: : RGD PMID:11243954 RGD:4140482 NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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 chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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 chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP RGD PMID:7743671 RGD:8547590 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
JBrowse link
G Il1a interleukin 1 alpha IEP RGD PMID:8699818 RGD:7794730 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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 chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
JBrowse link
G Tnf tumor necrosis factor IEP RGD PMID:8699818 RGD:7794730 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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 chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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 chr11:99,035,025...99,045,903
Ensembl chr11:99,035,022...99,045,903
JBrowse link
G Cd209d CD209d antigen ISO RGD PMID:21381282 RGD:5131183 NCBI chr 8:3,921,824...3,928,548
Ensembl chr 8:3,921,824...3,928,555
JBrowse link
G Cftr cystic fibrosis transmembrane conductance regulator severity IMP RGD PMID:22135344 RGD:35673332 NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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 6:129,403,647...129,428,963
Ensembl chr 6:129,401,735...129,428,963
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 6:129,438,554...129,449,748
Ensembl chr 6:129,438,554...129,449,742
JBrowse link
G Crp C-reactive protein, pentraxin-related treatment ISO RGD PMID:20879853 RGD:9495929 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
JBrowse link
G Il15 interleukin 15 ISO DNA:polymorphism (human) RGD PMID:16893395 RGD:4981337 NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
JBrowse link
G Mbl1 mannose-binding lectin (protein A) 1 susceptibility IMP RGD PMID:20064561 RGD:8694071 NCBI chr14:40,873,413...40,885,861
Ensembl chr14:40,873,415...40,881,558
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility IMP RGD PMID:20064561 RGD:8694071 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
JBrowse link
G S100b S100 protein, beta polypeptide, neural ISO DNA:SNP: :427C>T (human) RGD PMID:22114731 RGD:8695981 NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
JBrowse link
G Tlr1 toll-like receptor 1 susceptibility ISO DNA:SNPs: :p.R80T, p.N248S (human) RGD PMID:16461792 RGD:4889535 NCBI chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906
JBrowse link
G Tlr2 toll-like receptor 2 IEP mRNA:increased expression:lung RGD PMID:19781388 RGD:4145322 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
JBrowse link
G Tlr6 toll-like receptor 6 susceptibility ISO DNA:SNP: :p.S249P (human) RGD PMID:16461792 RGD:4889535 NCBI chr 5:65,109,379...65,128,387
Ensembl chr 5:65,109,374...65,117,440
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 family 7, member a ISO ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis OMIM
ClinVar
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 NCBI chr 6:129,438,554...129,449,748
Ensembl chr 6:129,438,554...129,449,742
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 chr 1:20,847,370...20,855,498
Ensembl chr 1:20,847,370...20,860,841
JBrowse link
Candidiasis, Familial, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G E130307A14Rik RIKEN cDNA E130307A14 gene ISO ClinVar Annotator: match by term: Candidiasis, familial, 8 ClinVar PMID:9536098 PMID:17576681 PMID:20953186 PMID:20953188 PMID:22513239 More... NCBI chr10:39,497,407...39,608,003
Ensembl chr10:39,497,408...39,608,012
JBrowse link
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 chr10:39,488,930...39,531,303
Ensembl chr10:39,488,930...39,531,303
JBrowse link
Candidiasis, Familial, 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brk1 BRICK1, SCAR/WAVE actin-nucleating complex subunit ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912
JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 6:113,401,595...113,412,721
Ensembl chr 6:113,401,595...113,412,721
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 chr 6:113,460,317...113,470,304
Ensembl chr 6:113,460,258...113,470,304
JBrowse link
G Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 6:113,491,848...113,508,599
Ensembl chr 6:113,491,835...113,508,613
JBrowse link
G Fancd2 Fanconi anemia, complementation group D2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978
JBrowse link
G Fancd2os Fancd2 opposite strand ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676
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 chr 6:113,448,416...113,460,124
Ensembl chr 6:113,448,388...113,460,101
JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 6:113,435,659...113,447,719
Ensembl chr 6:113,435,445...113,447,719
JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 6:113,419,478...113,425,190
Ensembl chr 6:113,419,530...113,425,190
JBrowse link
G Prrt3 proline-rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 6:113,470,599...113,479,071
Ensembl chr 6:113,470,600...113,478,892
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594
JBrowse link
chromoblastomycosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma treatment IDA RGD PMID:29481557 RGD:14975102 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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 chr 6:120,440,143...120,460,692
Ensembl chr 6:120,440,208...120,464,520
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 chr14:33,099,855...33,169,215
Ensembl chr14:33,099,855...33,169,115
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis
CTD
ClinVar
PMID:21714643 PMID:21727188 PMID:23541320 PMID:24033266 PMID:24343863 More... NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
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 chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602
JBrowse link
G Cxcl15 chemokine (C-X-C motif) ligand 15 ISO DNA:SNP:promoter:g.-251T>A (human) RGD PMID:17709521 RGD:150523787 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
JBrowse link
G Tlr2 toll-like receptor 2 IEP mRNA:increased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
JBrowse link
G Tlr4 toll-like receptor 4 IEP mRNA:decreased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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, sub-family A (ABC1), member 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,318,611...25,338,556
Ensembl chr 2:25,318,715...25,338,552
JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:26,483,069...26,494,429
Ensembl chr 2:26,483,069...26,494,429
JBrowse link
G Ajm1 apical junction component 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,465,428...25,470,111
Ensembl chr 2:25,465,428...25,471,769
JBrowse link
G C8g complement component 8, gamma polypeptide ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,388,662...25,391,919
Ensembl chr 2:25,388,663...25,391,731
JBrowse link
G Card9 caspase recruitment domain family, member 9 susceptibility ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:9835960 PMID:16199547 PMID:17576681 PMID:19864672 More... NCBI chr 2:26,242,199...26,250,957
Ensembl chr 2:26,242,188...26,250,930
JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,498,641...25,507,690
Ensembl chr 2:25,498,647...25,507,690
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 chr 2:25,346,855...25,348,789
Ensembl chr 2:25,346,850...25,348,788
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 chr 2:26,518,469...26,526,509
Ensembl chr 2:26,518,469...26,526,509
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 chr 2:25,447,838...25,452,096
Ensembl chr 2:25,447,859...25,452,094
JBrowse link
G Egfl7 EGF-like domain 7 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:26,471,095...26,482,694
Ensembl chr 2:26,470,026...26,483,132
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 chr 2:25,285,886...25,291,335
Ensembl chr 2:25,285,886...25,291,333
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 chr 2:26,272,810...26,279,352
Ensembl chr 2:26,272,814...26,279,328
JBrowse link
G Fbxw5 F-box and WD-40 domain protein 5 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,390,762...25,395,482
Ensembl chr 2:25,390,762...25,395,483
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 chr 2:25,312,363...25,316,386
Ensembl chr 2:25,313,279...25,316,386
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 chr 2:26,286,261...26,299,313
Ensembl chr 2:26,286,261...26,299,215
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 chr 2:25,572,738...25,576,093
Ensembl chr 2:25,572,738...25,576,093
JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,380,857...25,384,073
Ensembl chr 2:25,380,857...25,383,923
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 chr 2:25,534,156...25,538,813 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 chr 2:25,566,650...25,571,620
Ensembl chr 2:25,566,798...25,571,620
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 chr 2:25,543,130...25,546,229
Ensembl chr 2:25,543,132...25,546,229
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 chr 2:25,453,124...25,461,328
Ensembl chr 2:25,453,127...25,464,857
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 chr 2:25,222,742...25,242,225
Ensembl chr 2:25,222,350...25,242,224
JBrowse link
G Mir126a microRNA 126a ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:26,481,369...26,481,441
Ensembl chr 2:26,481,369...26,481,441
JBrowse link
G Notch1 notch 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675
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 chr 2:25,293,062...25,299,506
Ensembl chr 2:25,289,363...25,299,506
JBrowse link
G 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 chr 2:25,345,132...25,352,666
Ensembl chr 2:25,345,153...25,351,106
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 chr 2:25,463,442...25,465,602
Ensembl chr 2:25,463,442...25,465,236
JBrowse link
G Pmpca peptidase (mitochondrial processing) alpha ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:26,275,554...26,287,133
Ensembl chr 2:26,279,351...26,287,134
JBrowse link
G Ptgds prostaglandin D2 synthase (brain) ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,356,721...25,360,141
Ensembl chr 2:25,356,721...25,360,058
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 chr 2:25,473,029...25,498,493
Ensembl chr 2:25,473,030...25,498,533
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 chr 2:25,261,974...25,268,225
Ensembl chr 2:25,262,333...25,268,225
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 chr 2:26,299,443...26,336,138
Ensembl chr 2:26,299,443...26,335,228
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 chr 2:26,252,777...26,270,670
Ensembl chr 2:26,252,777...26,270,665
JBrowse link
G Snhg7 small nucleolar RNA host gene 7 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:26,527,188...26,530,256 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 chr 2:25,510,078...25,512,059
Ensembl chr 2:25,510,079...25,512,017
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 chr 2:25,407,994...25,436,952
Ensembl chr 2:25,407,994...25,436,952
JBrowse link
G Uap1l1 UDP-N-acteylglucosamine 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 chr 2:25,251,501...25,255,695
Ensembl chr 2:25,249,901...25,255,694
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 chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742
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 chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
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 chr 6:120,440,143...120,460,692
Ensembl chr 6:120,440,208...120,464,520
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 chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 severity IMP RGD PMID:11160230 RGD:11528533 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Ccl20 chemokine (C-C motif) ligand 20 IEP protein:increased expression:lung RGD PMID:20926800 RGD:7483599 NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
JBrowse link
G Ccr6 chemokine (C-C motif) receptor 6 disease_progression IMP RGD PMID:17379855 RGD:7483617 NCBI chr17:8,454,875...8,477,353
Ensembl chr17:8,454,875...8,475,973
JBrowse link
G Cxcr3 chemokine (C-X-C motif) receptor 3 ISO RGD PMID:17298426 RGD:5135501 NCBI chr  X:100,775,141...100,777,753
Ensembl chr  X:100,775,141...100,777,875
JBrowse link
G Cybb cytochrome b-245, beta polypeptide IMP RGD PMID:24054721 RGD:10450528 NCBI chr  X:9,301,493...9,354,005
Ensembl chr  X:9,301,491...9,354,010
JBrowse link
G Cyp2c38 cytochrome P450, family 2, subfamily c, polypeptide 38 treatment ISO DNA:polymorphisms:cds: RGD PMID:26861072 RGD:124713410 NCBI chr19:39,378,000...39,451,547
Ensembl chr19:39,378,000...39,451,519
JBrowse link
G Elane elastase, neutrophil expressed IMP RGD PMID:24054721 RGD:10450528 NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049
JBrowse link
G Il17a interleukin 17A severity IMP RGD PMID:21807912 RGD:8698654 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 ISO DNA:SNP:exon:rs5030737(human) RGD PMID:17311505 RGD:8693758 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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 3:66,127,308...66,133,227
Ensembl chr 3:66,127,331...66,133,226
JBrowse link
G S100b S100 protein, beta polypeptide, neural IMP RGD PMID:21423669 RGD:5508765 NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
JBrowse link
G Tlr2 toll-like receptor 2 IMP RGD PMID:16113258 RGD:8553022 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:18275280 RGD:5130863 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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 chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Fgf2 fibroblast growth factor 2 treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:polymorphism, haplotype:promoter:-889C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
JBrowse link
G Il1b interleukin 1 beta ISO DNA:polymorphism, haplotype: :-511C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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 chr14:30,608,433...30,623,943
Ensembl chr14:30,608,433...30,624,310
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 treatment ISO RGD PMID:17335555 RGD:8693746 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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 3:66,127,308...66,133,227
Ensembl chr 3:66,127,331...66,133,226
JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
JBrowse link
MUCOCUTANEOUS ULCERATION, CHRONIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28600438 NCBI chr19:5,687,569...5,698,162
Ensembl chr19:5,687,511...5,698,158
JBrowse link
paracoccidioidomycosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr5 chemokine (C-C motif) receptor 5 IMP RGD PMID:18292527 RGD:4892087 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
JBrowse link
G Cd28 CD28 antigen IMP RGD PMID:20713624 RGD:5131616 NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
JBrowse link
G Cfb complement factor B ISO RGD PMID:7921333 RGD:7421526 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta severity ISO DNA:polymorphism, haplotype:cds:HLA-DRB1*11 (human) RGD PMID:17325942 RGD:5147631 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Icam1 intercellular adhesion molecule 1 IMP RGD PMID:17003484 RGD:8547589 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 IEP mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse) RGD PMID:27992577 RGD:39939072 NCBI chr 8:25,074,149...25,086,968
Ensembl chr 8:25,074,152...25,087,025
JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
JBrowse link
G Il1b interleukin 1 beta treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 1:40,444,025...40,504,578
Ensembl chr 1:40,468,730...40,504,575
JBrowse link
G Il33 interleukin 33 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
JBrowse link
G Mmp2 matrix metallopeptidase 2 IDA RGD PMID:19765107 RGD:8657058 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
JBrowse link
G Mmp9 matrix metallopeptidase 9 IDA RGD PMID:19765107 RGD:8657058 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A(human) RGD PMID:17145373 RGD:7401182 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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 3:66,127,308...66,133,227
Ensembl chr 3:66,127,331...66,133,226
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 chr 2:163,568,491...163,592,161
Ensembl chr 2:163,568,504...163,592,159
JBrowse link
G Tlr4 toll-like receptor 4 IMP RGD PMID:19740386 RGD:7794681 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15283
    disease of anatomical entity 14937
      integumentary system disease 3656
        cutaneous mycosis 108
          adiaspiromycosis 0
          dermatomycosis + 99
          dermatophytosis + 0
          paracoccidioidomycosis + 13
          phaeohyphomycosis + 0
Path 2
Term Annotations click to browse term
  disease 15283
    disease by infectious agent 2121
      Bacterial Infections and Mycoses 965
        fungal infectious disease 148
          cutaneous mycosis 108
            adiaspiromycosis 0
            dermatomycosis + 99
            dermatophytosis + 0
            paracoccidioidomycosis + 13
            phaeohyphomycosis + 0
paths to the root