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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 chr 6:19,345,929...19,372,972
Ensembl chr 6:19,345,941...19,348,926
JBrowse link
G CCR1 C-C motif chemokine receptor 1 ISO RGD PMID:15951834 RGD:5688155 NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:10946288 RGD:8661731 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
JBrowse link
G CFTR CF transmembrane conductance regulator ISO DNA:mutations: : RGD PMID:11243954 RGD:4140482 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:7743671 RGD:8547590 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:8699818 RGD:7794730 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
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 chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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 chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:8699818 RGD:7794730 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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 chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
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 chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO associated with Neutropenia;mRNA:increased expression:lung RGD PMID:19783686 RGD:5130908 NCBI chr10:32,110,366...32,112,529
Ensembl chr10:32,110,065...32,112,734
JBrowse link
G CCR7 C-C motif chemokine receptor 7 ISO associated with Neutropenia RGD PMID:19783686 RGD:5130908 NCBI chr12:21,857,286...21,869,211
Ensembl chr12:21,857,286...21,872,475
JBrowse link
G CD209 CD209 molecule ISO RGD PMID:21381282 RGD:5131183 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
JBrowse link
G CFTR CF transmembrane conductance regulator severity ISO RGD PMID:22135344 RGD:35673332 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
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 chr 5:61,849,042...61,870,288
Ensembl chr 5:61,849,253...61,868,049
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 chr 5:61,832,910...61,846,441
Ensembl chr 5:61,832,954...61,846,434
JBrowse link
G CRP C-reactive protein, pentraxin-related treatment ISO RGD PMID:20879853 RGD:9495929 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
JBrowse link
G IL15 interleukin 15 ISO DNA:polymorphism (human) RGD PMID:16893395 RGD:4981337 NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO RGD PMID:20064561 RGD:8694071 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G S100B S100 calcium binding protein B ISO DNA:SNP: :427C>T (human) RGD PMID:22114731 RGD:8695981
G TLR1 toll like receptor 1 susceptibility ISO DNA:SNPs: :p.R80T, p.N248S (human) RGD PMID:16461792 RGD:4889535 NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression:lung RGD PMID:19781388 RGD:4145322 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TLR6 toll like receptor 6 susceptibility ISO DNA:SNP: :p.S249P (human) RGD PMID:16461792 RGD:4889535 NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650
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 chr 5:61,832,910...61,846,441
Ensembl chr 5:61,832,954...61,846,434
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 7:46,058,371...46,066,039
Ensembl chr 7:46,059,002...46,077,048
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 chr 1:77,483,997...77,541,557
Ensembl chr 1:77,487,577...77,541,198
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 chr13:66,315,438...66,324,641
Ensembl chr13:66,315,315...66,324,641
JBrowse link
G CIDEC cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr13:66,141,836...66,149,801
Ensembl chr13:66,141,839...66,149,703
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 chr13:66,194,795...66,203,419
Ensembl chr13:66,194,865...66,203,412
JBrowse link
G EMC3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr13:66,221,844...66,241,963
Ensembl chr13:66,217,970...66,241,935
JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,309,630...66,310,166
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 chr13:66,179,298...66,194,750 JBrowse link
G IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr13:66,164,492...66,177,967 JBrowse link
G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr13:66,154,855...66,158,329 JBrowse link
G PRRT3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr13:66,200,400...66,211,595
Ensembl chr13:66,200,797...66,211,449
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
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 chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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 5:69,461,280...69,480,343
Ensembl chr 5:69,461,290...69,480,112
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 chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,108,874
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 chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
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 chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO DNA:SNP:promoter:g.-251T>A (human) RGD PMID:17709521 RGD:150523787 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:decreased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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
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
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
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...
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G LOC100513261 14 kDa phosphohistidine phosphatase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G LOC110258087 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase-like ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G MIR126 microRNA mir-126 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
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
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
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
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
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
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
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
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
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
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
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
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
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 3:19,447,488...19,489,201
Ensembl chr 3:19,443,359...19,489,152
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 chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
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 5:69,461,280...69,480,343
Ensembl chr 5:69,461,290...69,480,112
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 chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 severity ISO RGD PMID:11160230 RGD:11528533 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO protein:increased expression:lung RGD PMID:20926800 RGD:7483599 NCBI chr15:129,172,743...129,176,069 JBrowse link
G CCR6 C-C motif chemokine receptor 6 disease_progression ISO RGD PMID:17379855 RGD:7483617 NCBI chr 1:2,016,600...2,034,172
Ensembl chr 1:2,018,608...2,019,821
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:17298426 RGD:5135501 NCBI chr  X:57,592,032...57,595,706
Ensembl chr  X:57,592,038...57,595,692
JBrowse link
G CYP2C49 cytochrome P450 2C49 treatment ISO DNA:polymorphisms:cds: RGD PMID:26861072 RGD:124713410 NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455
JBrowse link
G ELANE elastase, neutrophil expressed ISO RGD PMID:24054721 RGD:10450528 NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027
JBrowse link
G GP91-PHOX NADPH oxidase heavy chain subunit ISO RGD PMID:24054721 RGD:10450528 NCBI chr  X:33,654,656...33,678,346
Ensembl chr  X:33,643,648...33,680,580
JBrowse link
G IL17A interleukin 17A severity ISO RGD PMID:21807912 RGD:8698654 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:SNP:exon:rs5030737(human) RGD PMID:17311505 RGD:8693758 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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 chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
JBrowse link
G S100B S100 calcium binding protein B ISO RGD PMID:21423669 RGD:5508765
G TLR2 toll like receptor 2 ISO RGD PMID:16113258 RGD:8553022 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:18275280 RGD:5130863 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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 chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
JBrowse link
G CD209 CD209 molecule susceptibility ISO DNA:SNPs:3'utr,intron:multiple RGD PMID:22384201 RGD:39938996 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
JBrowse link
G FGF2 fibroblast growth factor 2 treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G IL1A interleukin 1 alpha ISO DNA:polymorphism, haplotype:promoter:-889C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
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 chr13:34,928,455...34,948,250
Ensembl chr13:34,928,439...34,948,229
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO DNA:polymorphism, haplotype: :-511C>T (human) RGD PMID:18484169 RGD:4142867
G MBL2 mannose binding lectin 2 treatment ISO RGD PMID:17335555 RGD:8693746 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G PTX3 pentraxin 3 susceptibility
no_association
ISO protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
DNA:SNP:intron:rs1840680 (human)
protein:increased expression:plasma
DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527
RGD PMID:29020397 PMID:29964232 RGD:38501098 RGD:38508894 NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
JBrowse link
G VEGFA vascular endothelial growth factor A treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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 chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
JBrowse link
paracoccidioidomycosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR5 C-C motif chemokine receptor 5 ISO RGD PMID:18292527 RGD:4892087 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
JBrowse link
G CD28 CD28 molecule ISO RGD PMID:20713624 RGD:5131616 NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,203...107,162,935
JBrowse link
G CFB complement factor B ISO RGD PMID:7921333 RGD:7421526 NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:17003484 RGD:8547589 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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 chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
JBrowse link
G IL1RL1 interleukin 1 receptor like 1 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
JBrowse link
G IL33 interleukin 33 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
JBrowse link
G LOC110258578 interleukin-1 beta-like treatment ISO RGD PMID:28992214 RGD:39938858
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:19765107 RGD:8657058 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:19765107 RGD:8657058 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A(human) RGD PMID:17145373 RGD:7401182 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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 chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
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 chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:19740386 RGD:7794681 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14500
    disease of anatomical entity 14224
      integumentary system disease 3524
        cutaneous mycosis 100
          adiaspiromycosis 0
          dermatomycosis + 91
          dermatophytosis + 0
          paracoccidioidomycosis + 12
          phaeohyphomycosis + 0
Path 2
Term Annotations click to browse term
  disease 14500
    disease by infectious agent 2007
      Bacterial Infections and Mycoses 916
        fungal infectious disease 136
          cutaneous mycosis 100
            adiaspiromycosis 0
            dermatomycosis + 91
            dermatophytosis + 0
            paracoccidioidomycosis + 12
            phaeohyphomycosis + 0
paths to the root