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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:systemic mycosis
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Accession:DOID:0050136 term browser browse the term
Definition:A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs. (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 chr16:37,678,518...37,689,350
Ensembl chr16:56,819,949...56,822,131
JBrowse link
G CCR1 C-C motif chemokine receptor 1 ISO RGD PMID:15951834 RGD:5688155 NCBI chr 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:10946288 RGD:8661731 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
JBrowse link
G CFTR CF transmembrane conductance regulator ISO DNA:mutations: : RGD PMID:11243954 RGD:4140482 NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:7743671 RGD:8547590 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:8699818 RGD:7794730 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human) RGD PMID:23278646 RGD:36049760 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
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 chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:8699818 RGD:7794730 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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 chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
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 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
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 9:34,525,820...34,527,628
Ensembl chr 9:35,334,353...35,336,108
JBrowse link
G CCR7 C-C motif chemokine receptor 7 ISO associated with Neutropenia RGD PMID:19783686 RGD:5130908 NCBI chr17:16,720,236...16,731,955
Ensembl chr17:16,949,119...16,956,370
JBrowse link
G CFTR CF transmembrane conductance regulator severity ISO RGD PMID:22135344 RGD:35673332 NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864
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 chr12:10,115,664...10,145,766
Ensembl chr12:10,359,392...10,418,806
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 chr12:10,161,780...10,174,943
Ensembl chr12:10,410,384...10,425,452
JBrowse link
G CRP C-reactive protein treatment ISO RGD PMID:20879853 RGD:9495929 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G IL15 interleukin 15 ISO DNA:polymorphism (human) RGD PMID:16893395 RGD:4981337 NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO RGD PMID:20064561 RGD:8694071 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link
G S100B S100 calcium binding protein B ISO DNA:SNP: :427C>T (human) RGD PMID:22114731 RGD:8695981 NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953
JBrowse link
G TLR1 toll like receptor 1 susceptibility ISO DNA:SNPs: :p.R80T, p.N248S (human) RGD PMID:16461792 RGD:4889535 NCBI chr 4:33,119,485...33,133,541
Ensembl chr 4:38,979,006...38,981,366
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression:lung RGD PMID:19781388 RGD:4145322 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G TLR6 toll like receptor 6 susceptibility ISO DNA:SNP: :p.S249P (human) RGD PMID:16461792 RGD:4889535 NCBI chr 4:33,153,151...33,174,053
Ensembl chr 4:39,009,103...39,011,490
JBrowse link
Candidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD1D CD1d molecule ameliorates ISO associated with endotoxemia RGD PMID:32154791 RGD:127345119 NCBI chr 1:133,549,258...133,557,752
Ensembl chr 1:137,341,690...137,348,173
JBrowse link
G EPHB2 EPH receptor B2 exacerbates ISO RGD PMID:33685996 RGD:127229905 NCBI chr 1:21,895,961...22,107,649
Ensembl chr 1:22,912,570...23,047,118
JBrowse link
candidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIRE autoimmune regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12050215 NCBI chr21:30,543,018...30,556,225
Ensembl chr21:43,837,340...43,848,974
JBrowse link
G CHRM2 cholinergic receptor muscarinic 2 ISO RGD PMID:19958780 RGD:5509581 NCBI chr 7:128,827,089...128,978,496
Ensembl chr 7:141,466,396...141,467,796
JBrowse link
G IL33 interleukin 33 treatment ISO RGD PMID:22661085 RGD:40400896 NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
JBrowse link
G LTF lactotransferrin ISO RGD PMID:17922408 RGD:7243948 NCBI chr 3:46,337,738...46,367,476
Ensembl chr 3:47,442,440...47,471,532
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ameliorates ISO RGD PMID:28112734 RGD:150340684 NCBI chr10:45,806,748...45,936,362 JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 disease_progression ISO RGD PMID:27736647 RGD:40818241 NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 exacerbates ISO RGD PMID:30944411 RGD:127229913 NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821
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 chr12:10,161,780...10,174,943
Ensembl chr12:10,410,384...10,425,452
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 6:51,789,210...51,797,470
Ensembl chr 6:53,057,318...53,065,124
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 6:109,367,333...109,414,601
Ensembl chr 6:113,444,005...113,485,533
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 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545
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 3:9,811,995...9,836,069
Ensembl chr 3:10,048,554...10,173,107
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 3:9,878,265...9,889,826 JBrowse link
G EMC3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 3:9,907,446...9,932,140
Ensembl chr 3:10,256,276...10,280,626
JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 3:10,038,805...10,043,651
Ensembl chr 3:10,392,169...10,392,702
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 3:9,861,423...9,878,154
Ensembl chr 3:10,210,241...10,226,796
JBrowse link
G IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 3:9,846,319...9,860,735
Ensembl chr 3:10,195,209...10,208,958
JBrowse link
G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 3:9,835,123...9,838,398
Ensembl chr 3:10,183,760...10,187,064
JBrowse link
G PRRT3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 3:9,890,336...9,897,263
Ensembl chr 3:10,238,720...10,246,127
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
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 chr22:511,091...541,504
Ensembl chr22:15,950,463...15,974,865
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 chr10:45,806,748...45,936,362 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 chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280
JBrowse link
coccidioidomycosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MBL2 mannose binding lectin 2 ISO protein:decreased secretion:serum (human) RGD PMID:19083122 RGD:4889458 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link
cryptococcal meningitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD274 CD274 molecule treatment ISO RGD PMID:29058791 RGD:41412178 NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO associated with HIV Infections;DNA:polymorphism:cds: RGD PMID:21592999 RGD:12910861 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:29058791 RGD:41412178 NCBI chr2B:129,111,509...129,121,127 JBrowse link
cryptococcosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase exacerbates ISO RGD PMID:23820392 RGD:124715476 NCBI chr  X:90,551,874...90,588,786
Ensembl chr  X:100,684,017...100,725,187
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:11714821 RGD:11528563 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:16552046 RGD:7248435 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
JBrowse link
G CD86 CD86 molecule ISO protein:increased expression:lung, dendritic cell (mouse) RGD PMID:16790753 RGD:4892554 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
JBrowse link
G CHIA chitinase acidic ISO protein:increased expression:lung (rat) RGD PMID:18482441 RGD:4990459 NCBI chr 1:113,935,888...113,965,541
Ensembl chr 1:126,381,724...126,391,909
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO mRNA:increased expression:lung (mouse) RGD PMID:27596810 RGD:38549345 NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
JBrowse link
G IL23A interleukin 23 subunit alpha severity ISO RGD PMID:16393998 PMID:22342846 RGD:39457936 RGD:39458042 NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617
JBrowse link
G IL33 interleukin 33 ISO mRNA:increased expression:lung (mouse) RGD PMID:27596810 RGD:38549345 NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
JBrowse link
G IL4R interleukin 4 receptor ISO RGD PMID:18954266 RGD:4890005 Ensembl chr16:27,642,702...27,737,445 JBrowse link
G MARCO macrophage receptor with collagenous structure disease_progression ISO RGD PMID:28298522 RGD:41412191 NCBI chr2B:5,896,433...5,940,284
Ensembl chr2B:119,475,677...119,520,385
JBrowse link
G SFTPC surfactant protein C ISO mRNA:increased expression:lung (mouse) RGD PMID:27596810 RGD:38549345 NCBI chr 8:21,402,060...21,409,438
Ensembl chr 8:18,345,940...18,348,764
JBrowse link
encephalitozoonosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL21 interleukin 21 ISO protein:increased expression:CD4-positive helper T cell (mouse) RGD PMID:26597007 RGD:11086452 NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
JBrowse link
Fungemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD274 CD274 molecule treatment ISO RGD PMID:23663657 RGD:40818234 NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO protein:increased expression:CD4 Tcell, CD8 Tcell: RGD PMID:23663657 RGD:40818234 NCBI chr2B:129,111,509...129,121,127 JBrowse link
histoplasmosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD274 CD274 molecule ISO protein:increased expression:macrophage, dendritic cell, lymphocyte, splenocytes, RGD PMID:18268348 RGD:40822806 NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
JBrowse link
G IL17A interleukin 17A ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:19469707 RGD:9068939 NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:18268348 RGD:40822806 NCBI chr2B:129,111,509...129,121,127 JBrowse link
G PDCD1LG2 programmed cell death 1 ligand 2 ISO protein:increased expression:macrophage, dendritic cell RGD PMID:18268348 RGD:40822806 NCBI chr 9:5,313,071...5,391,676
Ensembl chr 9:5,514,449...5,575,688
JBrowse link
Immunodeficiency 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 9:108,067,633...108,089,742
Ensembl chr 9:137,036,696...137,057,776
JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 9:107,749,195...107,763,033
Ensembl chr 9:136,722,914...136,737,286
JBrowse link
G AJM1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 9:107,898,222...107,908,125 JBrowse link
G C8G complement C8 gamma chain ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 9:108,003,376...108,005,648
Ensembl chr 9:136,974,556...136,976,152
JBrowse link
G C9H9orf163 chromosome 9 C9orf163 homolog ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 9:107,561,734...107,562,397 JBrowse link
G CARD9 caspase recruitment domain family member 9 susceptibility ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS OMIM
ClinVar
PMID:9536098 PMID:9835960 PMID:16199547 PMID:17576681 PMID:19864672 More... NCBI chr 9:107,432,709...107,446,271
Ensembl chr 9:136,416,279...136,424,756
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 9:107,853,783...107,865,565
Ensembl chr 9:136,824,266...136,835,166
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 9:108,054,934...108,057,100
Ensembl chr 9:137,023,505...137,025,361
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 9:107,786,349...107,798,873
Ensembl chr 9:136,760,243...136,769,833
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 9:107,919,200...107,923,415
Ensembl chr 9:136,889,383...136,891,133
JBrowse link
G EGFL7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 9:107,735,192...107,748,729
Ensembl chr 9:136,708,783...136,722,448
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 9:108,108,780...108,114,806
Ensembl chr 9:137,077,207...137,083,031
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 9:107,474,676...107,483,625
Ensembl chr 9:136,454,597...136,463,414
JBrowse link
G FBXW5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 9:107,998,949...108,003,247
Ensembl chr 9:136,969,957...136,973,945
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 9:108,090,793...108,093,513
Ensembl chr 9:137,058,831...137,061,607
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 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731
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 9:108,008,222...108,014,028
Ensembl chr 9:136,981,665...136,984,643
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 9:107,818,230...107,828,652
Ensembl chr 9:136,788,329...136,794,304
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 9:107,811,520...107,817,297
Ensembl chr 9:136,783,245...136,787,178
JBrowse link
G LCNL1 lipocalin like 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 9:108,043,835...108,045,585
Ensembl chr 9:137,012,430...137,013,864
JBrowse link
G LINC02908 long intergenic non-protein coding RNA 2908 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 9:108,093,280...108,097,369 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 9:107,908,156...107,917,883
Ensembl chr 9:136,878,324...136,888,065
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 9:108,148,020...108,168,931
Ensembl chr 9:137,118,361...137,139,066
JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
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 9:108,100,164...108,107,324
Ensembl chr 9:137,068,846...137,072,257
JBrowse link
G PAXX PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 9:108,052,793...108,055,298
Ensembl chr 9:137,021,230...137,022,805
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 9:107,906,160...107,908,130 JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569
JBrowse link
G PTGDS prostaglandin D2 synthase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 9:108,037,994...108,042,136
Ensembl chr 9:137,006,601...137,009,680
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 9:107,865,764...107,898,073
Ensembl chr 9:136,849,527...136,868,545
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 9:108,122,658...108,132,397 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 9:107,516,556...107,560,930
Ensembl chr 9:136,493,957...136,533,655
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 9:107,448,180...107,473,022
Ensembl chr 9:136,428,732...136,450,653
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 9:107,849,421...107,851,438 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 9:107,938,935...107,984,797
Ensembl chr 9:136,917,358...136,955,331
JBrowse link
G UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 9:108,138,569...108,145,644
Ensembl chr 9:137,108,764...137,115,793
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 Ensembl chr16:27,774,864...27,821,769 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 chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280
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 chr22:511,091...541,504
Ensembl chr22:15,950,463...15,974,865
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 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
JBrowse link
G CCL2 C-C motif chemokine ligand 2 severity ISO RGD PMID:11160230 RGD:11528533 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO protein:increased expression:lung RGD PMID:20926800 RGD:7483599 NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
JBrowse link
G CCR6 C-C motif chemokine receptor 6 disease_progression ISO RGD PMID:17379855 RGD:7483617 NCBI chr 6:165,094,563...165,109,774
Ensembl chr 6:170,069,689...170,084,779
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:17298426 RGD:5135501 NCBI chr  X:60,880,759...60,883,355
Ensembl chr  X:70,933,160...70,935,756
JBrowse link
G CYP2C19 cytochrome P450 family 2 subfamily C member 19 treatment ISO DNA:polymorphisms:cds: RGD PMID:26861072 RGD:124713410 NCBI chr10:91,375,255...91,465,215
Ensembl chr10:94,884,472...94,970,065
JBrowse link
G ELANE elastase, neutrophil expressed ISO RGD PMID:24054721 RGD:10450528 NCBI chr19:276,499...280,598 JBrowse link
G IL17A interleukin 17A severity ISO RGD PMID:21807912 RGD:8698654 NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
JBrowse link
G LOC100982531 cytochrome b-245 heavy chain ISO RGD PMID:24054721 RGD:10450528 NCBI chr  X:30,230,394...30,267,379
Ensembl chr  X:37,939,704...37,973,183
JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:SNP:exon:rs5030737(human) RGD PMID:17311505 RGD:8693758 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link
G PTX3 pentraxin 3 severity ISO protein:increased expression:bronchoalveolar lavage fluid (human)
DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527
RGD PMID:28487045 PMID:30275011 RGD:38501097 RGD:38508892 NCBI chr 3:154,485,470...154,492,293
Ensembl chr 3:162,537,577...162,543,652
JBrowse link
G S100B S100 calcium binding protein B ISO RGD PMID:21423669 RGD:5508765 NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:16113258 RGD:8553022 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:18275280 RGD:5130863 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
Invasive Candidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGAM integrin subunit alpha M ISO protein: increased expression: kidney RGD PMID:21063074 RGD:7207265 NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406
JBrowse link
G PTX3 pentraxin 3 severity ISO associated with hematologic cancer;DNA:SNP:intron:rs1840680 RGD PMID:30275011 RGD:38501097 NCBI chr 3:154,485,470...154,492,293
Ensembl chr 3:162,537,577...162,543,652
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 ISO RGD PMID:12917249 RGD:11528529 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G FGF2 fibroblast growth factor 2 treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
JBrowse link
G IL1A interleukin 1 alpha ISO DNA:polymorphism, haplotype:promoter:-889C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G IL1B interleukin 1 beta ISO DNA:polymorphism, haplotype: :-511C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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 chr 3:52,754,664...52,774,867
Ensembl chr 3:53,980,668...53,998,038
JBrowse link
G MBL2 mannose binding lectin 2 treatment ISO RGD PMID:17335555 RGD:8693746 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link
G PTX3 pentraxin 3 no_association
susceptibility
ISO DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527
protein:increased expression:plasma
DNA:SNP:intron:rs1840680 (human)
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
RGD PMID:29020397 PMID:29964232 RGD:38501098 RGD:38508894 NCBI chr 3:154,485,470...154,492,293
Ensembl chr 3:162,537,577...162,543,652
JBrowse link
G VEGFA vascular endothelial growth factor A treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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 chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
JBrowse link
oral candidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEBPB CCAAT enhancer binding protein beta susceptibility ISO RGD PMID:26317211 RGD:11079756 NCBI chr20:46,533,163...46,535,282 JBrowse link
G IL23A interleukin 23 subunit alpha severity ISO RGD PMID:19204111 RGD:39457957 NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617
JBrowse link
G LCN2 lipocalin 2 no_association ISO mRNA:increased expression:tongues: RGD PMID:24343647 RGD:126725083 NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798
JBrowse link
G LTF lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr 3:46,337,738...46,367,476
Ensembl chr 3:47,442,440...47,471,532
JBrowse link
G ZC3H12A zinc finger CCCH-type containing 12A ISO RGD PMID:26320658 RGD:11534569 NCBI chr 1:36,743,341...36,753,261
Ensembl chr 1:38,093,917...38,103,556
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 chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
JBrowse link
G CD28 CD28 molecule ISO RGD PMID:20713624 RGD:5131616 NCBI chr2B:90,938,795...90,971,438
Ensembl chr2B:209,076,388...209,111,213
JBrowse link
G CFB complement factor B ISO RGD PMID:7921333 RGD:7421526 NCBI chr 6:31,606,716...31,612,782 JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:17003484 RGD:8547589 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
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 chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352
JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL1B interleukin 1 beta treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL32 interleukin 32 ISO protein:increased expression:mouth mucosa, mononuclear cell (human) RGD PMID:33771629 RGD:150340738 NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929
JBrowse link
G IL33 interleukin 33 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:19765107 RGD:8657058 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:19765107 RGD:8657058 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A(human) RGD PMID:17145373 RGD:7401182 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
pneumocystosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AZIN1 antizyme inhibitor 1 ISO mRNA:increased expression:alveolar macrophage RGD PMID:19158080 RGD:14700806 NCBI chr 8:99,483,027...99,521,151
Ensembl chr 8:101,639,950...101,678,604
JBrowse link
G C3 complement C3 ISO RGD PMID:17169032 RGD:5129525 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:20618689 RGD:4891428 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:10968950 RGD:8547797 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
JBrowse link
G CSF2 colony stimulating factor 2 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:19487471 RGD:5131475 NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146
JBrowse link
G IL23A interleukin 23 subunit alpha ISO RGD PMID:17403873 RGD:39458043 NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617
JBrowse link
G IL33 interleukin 33 treatment ISO RGD PMID:21220696 RGD:40400892 NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO RGD PMID:20377877 RGD:4144112 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G MUC1 mucin 1, cell surface associated ISO protein:increased expression:serum RGD PMID:9617869 RGD:5131424 NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850
JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:decreased dimerization:alveolar macrophage
mRNA:increased expression:alveolar macrophage
RGD PMID:20377877 PMID:20558778 RGD:4144112 RGD:4891486 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G SFTPA1 surfactant protein A1 ISO protein:increased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr10:76,571,312...76,575,820 JBrowse link
G SFTPB surfactant protein B ISO protein:decreased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr2A:85,708,485...85,718,120
Ensembl chr2A:87,257,244...87,268,332
JBrowse link
G SFTPC surfactant protein C ISO protein:decreased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr 8:21,402,060...21,409,438
Ensembl chr 8:18,345,940...18,348,764
JBrowse link
G SFTPD surfactant protein D ISO protein:increased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr10:76,275,147...76,318,952
Ensembl chr10:78,965,252...78,974,181
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:18400546 RGD:4145341 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
Presumed Ocular Histoplasmosis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100982859 patr class I histocompatibility antigen, B-2 alpha chain ISO DNA:polymorphism:cds:HLA-B7 (human) RGD PMID:14522093 RGD:7364917 NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067
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 3:154,485,470...154,492,293
Ensembl chr 3:162,537,577...162,543,652
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 chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:19740386 RGD:7794681 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
Systemic Candidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPO myeloperoxidase severity ISO RGD PMID:12085336 RGD:40903072 NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111
JBrowse link
G TNF tumor necrosis factor ISO mRNA, protein:increased expression:spleen, plasma RGD PMID:11562071 RGD:10449457 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
vulvovaginal candidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL8 C-X-C motif chemokine ligand 8 ISO associated with human immunodeficiency virus infectious disease;protein:increased expression:vaginal fluid (human) RGD PMID:18243333 RGD:150523783 NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO RGD PMID:23853597 RGD:39938863 NCBI chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352
JBrowse link
G LTF lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr 3:46,337,738...46,367,476
Ensembl chr 3:47,442,440...47,471,532
JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:SNP:cds: RGD PMID:17470593 RGD:8693700 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link

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  disease 14685
    disease by infectious agent 1997
      Bacterial Infections and Mycoses 916
        fungal infectious disease 140
          systemic mycosis 133
            Fungemia + 4
            Systemic Candidiasis 2
            opportunistic mycosis + 123
            penicilliosis 0
            primary systemic mycosis + 20
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