Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:dermatomycosis
go back to main search page
Accession:DOID:1563 term browser browse the term
Definition:A cutaneous mycosis that results in fungal infection located in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes. (DO)
Synonyms:exact_synonym: dermatomycoses;   fungal skin disease;   fungal skin diseases
 primary_id: MESH:D003881
 xref: ICD9CM:111.9
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:15951834 RGD:5688155 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:10946288 RGD:8661731 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO DNA:mutations: : RGD PMID:11243954 RGD:4140482 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:7743671 RGD:8547590 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:8699818 RGD:7794730 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		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 chr 1:228,016,439...228,024,736 JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human) RGD PMID:23278646 RGD:36049760 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO associated with cystic fibrosis; DNA:polymorphisms: : RGD PMID:23278646 RGD:36049760 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Tlr9 toll-like receptor 9 susceptibility ISO DNA:SNP:promoter:g.-1237T>C rs5743836 (human) RGD PMID:18275280 PMID:18936185 RGD:5130863, RGD:5130858 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:8699818 RGD:7794730 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		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 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		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 chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO associated with Neutropenia;mRNA:increased expression:lung RGD PMID:19783686 RGD:5130908 NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308 		JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO associated with Neutropenia RGD PMID:19783686 RGD:5130908 NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309 		JBrowse link
G Cd209d CD209d molecule ISO RGD PMID:21381282 RGD:5131183 NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171 		JBrowse link
G Cftr CF transmembrane conductance regulator severity ISO RGD PMID:22135344 RGD:35673332 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Clec1a C-type lectin domain family 1, member A susceptibility ISO ClinVar Annotator: match by term: Aspergillosis, susceptibility to
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:29489751 NCBI chr 4:162,875,360...162,902,571
Ensembl chr 4:162,877,346...162,901,247 		JBrowse link
G Clec7a C-type lectin domain containing 7A susceptibility ISO ClinVar Annotator: match by term: Aspergillosis, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 NCBI chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897 		JBrowse link
G Crp C-reactive protein treatment ISO RGD PMID:20879853 RGD:9495929 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Il15 interleukin 15 ISO DNA:polymorphism (human) RGD PMID:16893395 RGD:4981337 NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820 		JBrowse link
G Mbl1 mannose binding lectin 1 susceptibility ISO RGD PMID:20064561 RGD:8694071 NCBI chr16:17,029,146...17,035,187
Ensembl chr16:17,029,118...17,035,174 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO RGD PMID:20064561 RGD:8694071 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G S100b S100 calcium binding protein B ISO DNA:SNP: :427C>T (human) RGD PMID:22114731 RGD:8695981 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
G Tlr1 toll-like receptor 1 susceptibility ISO DNA:SNPs: :p.R80T, p.N248S (human) RGD PMID:16461792 RGD:4889535 NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:lung RGD PMID:19781388 RGD:4145322 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr6 toll-like receptor 6 susceptibility ISO DNA:SNP: :p.S249P (human) RGD PMID:16461792 RGD:4889535 NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685 		JBrowse link
Autoinflammatory Disease, Familial, Behcet-Like-3 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 | ClinVar Annotator: match by term: RELA-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28600438 PMID:29758562 PMID:32969189 More... NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic ClinVar PMID:25741868 PMID:28492532 PMID:28600438 PMID:36926348 NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591 		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 susceptibility ISO ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897 		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:16199547 PMID:17576681 PMID:21350122 PMID:24033266 More... NCBI chr 9:23,190,094...23,201,482
Ensembl chr 9:23,190,100...23,201,482 		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 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20953186 PMID:20953188 More... NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667 		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 chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856 		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 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173 		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 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499 		JBrowse link
G Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 4:146,663,065...146,678,976
Ensembl chr 4:146,663,067...146,679,029 		JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412 		JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569 		JBrowse link
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 | ClinVar Annotator: match by term: IL17RC-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25918342 More... NCBI chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442 		JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 4:146,604,547...146,618,206
Ensembl chr 4:146,605,526...146,618,206 		JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288 		JBrowse link
G Prrt3 proline-rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 4:146,641,173...146,650,487
Ensembl chr 4:146,641,173...146,650,317 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		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 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
chronic mucocutaneous candidiasis 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: Candidiasis familial chronic mucocutaneous, autosomal recessive ClinVar PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 NCBI chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897 		JBrowse link
G Il17ra interleukin 17 receptor A ISO ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis | ClinVar Annotator: match by term: Familial Candidiasis, Recessive ClinVar PMID:16670328 PMID:18802100 PMID:21178015 PMID:21350122 PMID:24033266 More... NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174 		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 chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981 		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:23709754 PMID:24033266 More... NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540 		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 chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:decreased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
Immunodeficiency 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:28492532 NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:28492532 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450 		JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:28492532 NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844 		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:28492532 NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518 		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 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522 		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: Candidiasis, familial, 7 | ClinVar Annotator: match by term: Immunodeficiency 31C OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21714643 PMID:21727188 PMID:22195034 More... NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
immunodeficiency 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805 		JBrowse link
G Atp6v1e1 ATPase H+ transporting V1 subunit E1 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,022,358...154,044,486
Ensembl chr 4:154,022,358...154,044,584 		JBrowse link
G Bcl2l13 Bcl2-like 13 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,056,116...154,112,890
Ensembl chr 4:154,056,127...154,108,985 		JBrowse link
G Bid BH3 interacting domain death agonist ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,113,198...154,136,353
Ensembl chr 4:154,113,198...154,134,720 		JBrowse link
G C11h22orf39 similar to human chromosome 22 open reading frame 39 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619 		JBrowse link
G Cecr2 CECR2, histone acetyl-lysine reader ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:153,890,310...153,998,078
Ensembl chr 4:153,890,206...153,993,451 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502 		JBrowse link
G Dgcr6 DiGeorge syndrome critical region gene 6 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126 		JBrowse link
G Hdhd5 haloacid dehalogenase like hydrolase domain containing 5 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:153,701,026...153,753,303
Ensembl chr 4:153,718,791...153,753,277 		JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529 		JBrowse link
G Il17ra interleukin 17 receptor A ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 | ClinVar Annotator: match by term: Immunodeficiency 51 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 More... NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174 		JBrowse link
G Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,152,776...154,353,274
Ensembl chr 4:154,153,834...154,302,590 		JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		JBrowse link
G Prodh proline dehydrogenase ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781 		JBrowse link
G Slc25a18 solute carrier family 25 member 18 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,000,808...154,021,373
Ensembl chr 4:154,000,990...154,021,372 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Tmem121b transmembrane protein 121B ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:153,695,191...153,700,104
Ensembl chr 4:153,698,194...153,699,912 		JBrowse link
G Tssk2 testis-specific serine kinase 2 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:83,086,578...83,087,933 JBrowse link
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156 		JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144 		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 chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO RGD PMID:11160230 RGD:11528533 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO protein:increased expression:lung RGD PMID:20926800 RGD:7483599 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629 		JBrowse link
G Ccr6 C-C motif chemokine receptor 6 disease_progression ISO RGD PMID:17379855 RGD:7483617 NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:17298426 RGD:5135501 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969 		JBrowse link
G Cybb cytochrome b-245 beta chain ISO RGD PMID:24054721 RGD:10450528 NCBI chr  X:13,358,101...13,392,570
Ensembl chr  X:13,359,430...13,392,586 		JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 treatment ISO DNA:polymorphisms:cds: RGD PMID:26861072 RGD:124713410 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596 		JBrowse link
G Elane elastase, neutrophil expressed ISO RGD PMID:24054721 RGD:10450528 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Il17a interleukin 17A severity ISO RGD PMID:21807912 RGD:8698654 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:SNP:exon:rs5030737(human) RGD PMID:17311505 RGD:8693758 NCBI chr 1:228,016,439...228,024,736 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:30275011 PMID:28487045 RGD:38501097, RGD:38508892 NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323 		JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:21423669 RGD:5508765 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:16113258 RGD:8553022 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:18275280 RGD:5130863 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
Invasive Pulmonary Aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 treatment IDA RGD PMID:12917249 RGD:11528529 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cd209d CD209d molecule susceptibility ISO DNA:SNPs:3'utr,intron:multiple RGD PMID:22384201 RGD:39938996 NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171 		JBrowse link
G Fgf2 fibroblast growth factor 2 treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Il1a interleukin 1 alpha ISO DNA:polymorphism, haplotype:promoter:-889C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta ISO DNA:polymorphism, haplotype: :-511C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Itih4 inter-alpha-trypsin inhibitor heavy chain 4 IEP protein:increased expression:respiratory system fluid/secretion, serum RGD PMID:24360996 RGD:40903005 NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708 		JBrowse link
G Mbl2 mannose binding lectin 2 treatment ISO RGD PMID:17335555 RGD:8693746 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Ptx3 pentraxin 3 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 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323 		JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		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 chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323 		JBrowse link
sporotrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase IEP protein:altered activity:serum,lymphocyte RGD PMID:22169893 RGD:152995407 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:19740386 RGD:7794681 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      integumentary system disease 4309
        cutaneous mycosis 106
          dermatomycosis 97
            Hyalohyphomycosis + 39
            blastomycosis 0
            chromoblastomycosis 1
            chronic mucocutaneous candidiasis + 57
            cutaneous candidiasis 0
            dermatophytosis + 0
            eumycotic mycetoma 3
            lobomycosis 0
            pityriasis versicolor 0
            sporotrichosis 2
            tinea manuum 0
Path 2
Term Annotations click to browse term
  disease 19100
    Pathological Conditions, Signs and Symptoms 13604
      Signs and Symptoms 11183
        Neurologic Manifestations 10419
          sensory system disease 7329
            skin disease 4309
              Infectious Skin Diseases 305
                dermatomycosis 97
                  Hyalohyphomycosis + 39
                  blastomycosis 0
                  chromoblastomycosis 1
                  chronic mucocutaneous candidiasis + 57
                  cutaneous candidiasis 0
                  dermatophytosis + 0
                  eumycotic mycetoma 3
                  lobomycosis 0
                  pityriasis versicolor 0
                  sporotrichosis 2
                  tinea manuum 0
paths to the root