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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:fungal infectious disease
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Accession:DOID:1564 term browser browse the term
Definition:A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body. (DO)
Synonyms:exact_synonym: Fungal Disease;   Fungal Infection;   Fungus Disease;   Fungus Diseases;   Fungus Infection;   fungal diseases;   fungal infections;   fungus infections;   mycoses;   mycosis
 primary_id: MESH:D009181
 xref: ICD10CM:B49;   ICD9CM:110-118.99;   NCI:C3245
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
fungal infectious disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:sinus: RGD PMID:22287435 RGD:7483612 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 associated with Rhinosinusitis RGD PMID:22287435 RGD:7483612 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:22287435 RGD:7483612 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO associated with Rhinosinusitis RGD PMID:22287435 RGD:7483612 NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
JBrowse link
G Mbl2 mannose binding lectin 2 treatment ISO associated with Hematologic Diseases;DNA:polymorphisms:promoter,exon: RGD PMID:24886325 RGD:11530048 NCBI chr 1:228,016,439...228,024,736 JBrowse link
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
ClinVar
CTD
OMIM
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
Candidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd1d1 CD1d1 molecule ameliorates ISO associated with endotoxemia RGD PMID:32154791 RGD:127345119 NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
JBrowse link
G Ephb2 Eph receptor B2 exacerbates ISO RGD PMID:33685996 RGD:127229905 NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
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 chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060
JBrowse link
G Chrm2 cholinergic receptor, muscarinic 2 ISO RGD PMID:19958780 RGD:5509581 NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103
JBrowse link
G Il33 interleukin 33 treatment ISO RGD PMID:22661085 RGD:40400896 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
JBrowse link
G Ltf lactotransferrin ISO RGD PMID:17922408 RGD:7243948 NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ameliorates ISO RGD PMID:28112734 RGD:150340684 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 disease_progression ISO RGD PMID:27736647 RGD:40818241 NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 exacerbates ISO RGD PMID:30944411 RGD:127229913 NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:21350122 PMID:24033266 PMID:25741868 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 susceptibility ISO ClinVar Annotator: match by term: Candidiasis, familial, 8
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Candidiasis, familial, 9 | ClinVar Annotator: match by term: IL17RC-related condition
OMIM
CTD
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 Il17ra interleukin 17 receptor A ISO ClinVar Annotator: match by term: Familial Candidiasis, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 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
chronic recurrent multifocal osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acyp2 acylphosphatase 2 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr14:104,201,894...104,371,415
Ensembl chr14:104,201,895...104,371,386
JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO ClinVar Annotator: match by term: Chronic multifocal osteomyelitis
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
JBrowse link
G Mlkl mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Chronic multifocal osteomyelitis ClinVar NCBI chr19:39,277,526...39,304,555
Ensembl chr19:39,276,785...39,304,502
JBrowse link
G Mynn myoneurin ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 2:112,779,654...112,797,188
Ensembl chr 2:112,779,657...112,796,397
JBrowse link
G Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 ISS OMIM:259680 MouseDO NCBI chr18:71,310,387...71,396,752
Ensembl chr18:71,311,020...71,395,709
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:16890917 PMID:28492532 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782
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 chr 1:228,016,439...228,024,736 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 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO associated with HIV Infections;DNA:polymorphism:cds: RGD PMID:21592999 RGD:12910861 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO RGD PMID:29058791 PMID:29058791 RGD:41412178, RGD:41412178 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:11714821 RGD:11528563 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:16552046 RGD:7248435 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd86 CD86 molecule ISO protein:increased expression:lung, dendritic cell (mouse) RGD PMID:16790753 RGD:4892554 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Chia chitinase, acidic IEP protein:increased expression:lung (rat) RGD PMID:18482441 RGD:4990459 NCBI chr 2:193,614,374...193,656,532
Ensembl chr 2:193,614,114...193,656,533
JBrowse link
G Il23a interleukin 23 subunit alpha severity ISO RGD PMID:16393998 PMID:22342846 RGD:39457936, RGD:39458042 NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
JBrowse link
G Il33 interleukin 33 ISO mRNA:increased expression:lung (mouse) RGD PMID:27596810 RGD:38549345 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
JBrowse link
G Il4r interleukin 4 receptor ISO RGD PMID:18954266 RGD:4890005 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
JBrowse link
G Marco macrophage receptor with collagenous structure disease_progression ISO RGD PMID:28298522 RGD:41412191 NCBI chr13:31,616,278...31,648,521
Ensembl chr13:31,616,278...31,648,521
JBrowse link
G Sftpc surfactant protein C ISO mRNA:increased expression:lung (mouse) RGD PMID:27596810 RGD:38549345 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
JBrowse link
Deficiency of Interleukin-1 Receptor Antagonist term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1f10 interleukin 1 family member 10 ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 More... NCBI chr 3:7,072,511...7,075,439
Ensembl chr 3:7,072,511...7,075,439
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:12837270 PMID:16199547 PMID:16519819 PMID:17576681 More... NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il36rn interleukin 36 receptor antagonist ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 More... NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016
JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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
Fungal Eye Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr2 toll-like receptor 2 IEP mRNA:increased expression:cornea RGD PMID:19474209 RGD:2312502 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 IEP mRNA:increased expression:cornea RGD PMID:19474209 RGD:2312502 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
Fungal Keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clec7a C-type lectin domain containing 7A treatment ISO mRNA:increased expression:cornea RGD PMID:26963514 PMID:26963514 RGD:11526921, RGD:11526921 NCBI chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897
JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:20617171 RGD:7794847 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 treatment ISO mRNA:increased expression:cornea RGD PMID:26963514 PMID:26963514 PMID:26963514 RGD:11526921, RGD:11526921, RGD:11526921 NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
JBrowse link
G Tslp thymic stromal lymphopoietin disease_progression ISO RGD PMID:29550278 PMID:30853520 RGD:38549371, RGD:38549574 NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
JBrowse link
Fungal Lung Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5 complement C5 ISO RGD PMID:2612053 RGD:5130160 NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO RGD PMID:20045013 RGD:5129686 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
JBrowse link
G Gata2 GATA binding protein 2 IEP associated with Pneumocystis Infections RGD PMID:16774119 RGD:9587813 NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
JBrowse link
G Il13 interleukin 13 IEP
ISO
protein:increased expression:lung RGD PMID:16544260 PMID:19752036 RGD:4145506, RGD:4145474 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il33 interleukin 33 ISO protein:increased expression:lung RGD PMID:25746970 RGD:39938968 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:decreased expression:lung RGD PMID:10639453 RGD:4891455 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Sftpa1 surfactant protein A1 susceptibility ISO RGD PMID:20413160 RGD:4143489 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
JBrowse link
G Sftpd surfactant protein D susceptibility ISO RGD PMID:20413160 PMID:20413160 RGD:4143489, RGD:4143489 NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
JBrowse link
G Tnf tumor necrosis factor IEP protein:increased expression:lung RGD PMID:16544260 RGD:4145506 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO protein:increased expression:CD4 Tcell, CD8 Tcell: RGD PMID:23663657 PMID:23663657 RGD:40818234, RGD:40818234 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
G Il17a interleukin 17A ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:19469707 RGD:9068939 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO RGD PMID:18268348 RGD:40822806 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Pdcd1lg2 programmed cell death 1 ligand 2 ISO protein:increased expression:macrophage, dendritic cell RGD PMID:18268348 RGD:40822806 NCBI chr 1:227,158,941...227,223,938
Ensembl chr 1:227,158,941...227,223,938
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO Presumed Ocular Histoplasmosis Syndrome; DNA:polymorphisms:cds:HLA-B7 (human) RGD PMID:14522093 RGD:7364917 NCBI chr20:3,314,830...3,318,106 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:21714643 PMID:21727188 PMID:22195034 PMID:22730530 PMID:22847544 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 | ClinVar Annotator: match by term: Immunodeficiency 51
OMIM
CTD
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
infective endocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr6 toll-like receptor 6 susceptibility ISO DNA:SNP:cds:rs3775073(1263A>G)(p.Lys421Lys)(human) RGD PMID:25213166 RGD:127229900 NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
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 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 chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
JBrowse link
G Ptx3 pentraxin 3 severity ISO associated with hematologic cancer;DNA:SNP:intron:rs1840680 RGD PMID:30275011 RGD:38501097 NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
JBrowse link
Invasive Fungal Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 treatment ISO DNA:polymorphisms::
DNA:polymorphism:: CYP2C19*17(rs12248560)(human)
RGD PMID:25239277 PMID:31222084 RGD:124713540, RGD:124713541 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
JBrowse link
G Ptx3 pentraxin 3 severity ISO DNA:SNPs:intron:rs2305619, rs1840680 (human) RGD PMID:30275011 RGD:38501097 NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
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
Majeed Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr 9:111,160,708...111,220,463
Ensembl chr 9:111,160,712...111,220,352
JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Majeed syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 More... NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193
JBrowse link
G Myl12a myosin light chain 12A ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:110,891,970...110,899,655
Ensembl chr 9:110,873,959...110,916,580
JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:110,873,855...110,888,187 JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802
JBrowse link
mastoiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crp C-reactive protein disease_progression ISO RGD PMID:22578647 RGD:9491592 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 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 protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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 chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
JBrowse link
G Il23a interleukin 23 subunit alpha severity ISO RGD PMID:19204111 RGD:39457957 NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
JBrowse link
G Lcn2 lipocalin 2 no_association ISO mRNA:increased expression:tongues: RGD PMID:24343647 PMID:24343647 RGD:126725083, RGD:126725083 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
JBrowse link
G Zc3h12a zinc finger CCCH type containing 12A ISO RGD PMID:26320658 RGD:11534569 NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351
JBrowse link
osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Bb RT1 class II, locus Bb susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*050101, HLA-DQB1*0201, HLA-DQB1*0302 (human) RGD PMID:18312480 RGD:11041747 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd28 Cd28 molecule ISO RGD PMID:20713624 RGD:5131616 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
JBrowse link
G Cfb complement factor B ISO RGD PMID:7921333 RGD:7421526 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:17003484 RGD:8547589 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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 chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1b interleukin 1 beta treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
JBrowse link
G Il33 interleukin 33 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:19765107 RGD:8657058 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:19765107 RGD:8657058 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 severity ISO DNA:polymorphism, haplotype:cds:HLA-DRB1*11 (human) RGD PMID:17325942 RGD:5147631 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A(human) RGD PMID:17145373 RGD:7401182 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
Pneumocystis Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Db1 RT1 class II, locus Db1 IEP mRNA:increased expression:bronchoalveolar lavage, alveolar macrophage (rat) RGD PMID:20377877 RGD:4144112 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
pneumocystosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Azin1 antizyme inhibitor 1 IEP mRNA:increased expression:alveolar macrophage RGD PMID:19158080 RGD:14700806 NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578
JBrowse link
G C3 complement C3 IEP RGD PMID:17169032 RGD:5129525 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:20618689 RGD:4891428 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:10968950 RGD:8547797 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Csf2 colony stimulating factor 2 IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:19487471 RGD:5131475 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Il23a interleukin 23 subunit alpha ISO RGD PMID:17403873 RGD:39458043 NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
JBrowse link
G Il33 interleukin 33 treatment ISO RGD PMID:21220696 RGD:40400892 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:serum RGD PMID:9617869 RGD:5131424 NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Nos2 nitric oxide synthase 2 IEP mRNA:increased expression:alveolar macrophage
protein:decreased dimerization:alveolar macrophage
RGD PMID:20377877 PMID:20558778 RGD:4144112, RGD:4891486 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G RT1-Bb RT1 class II, locus Bb IEP RGD PMID:20377877 RGD:4144112 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:increased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
JBrowse link
G Sftpb surfactant protein B ISO protein:decreased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
JBrowse link
G Sftpc surfactant protein C ISO protein:decreased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
JBrowse link
G Sftpd surfactant protein D ISO protein:increased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:18400546 RGD:4145341 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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
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 chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
JBrowse link
G Tnf tumor necrosis factor ISO mRNA, protein:increased expression:spleen, plasma RGD PMID:11562071 RGD:10449457 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
vulvovaginal candidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ido1 indoleamine 2,3-dioxygenase 1 ISO RGD PMID:23853597 RGD:39938863 NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:SNP:cds: RGD PMID:17470593 RGD:8693700 NCBI chr 1:228,016,439...228,024,736 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    disease by infectious agent 2210
      Bacterial Infections and Mycoses 1071
        fungal infectious disease 162
          Central Nervous System Fungal Infections + 3
          Fungal Eye Infections + 5
          Fungal Lung Diseases + 55
          Invasive Fungal Infections + 15
          Pneumocystis Infections + 16
          Zygomycosis + 0
          candidiasis + 74
          chronic fungal otitis externa 0
          cryptococcosis + 13
          cutaneous mycosis + 105
          fungal esophagitis 0
          fungal gastritis 0
          infective endocarditis + 1
          osteomyelitis + 23
          otomycosis + 0
          subcutaneous mycosis + 4
          superficial mycosis + 0
          systemic mycosis + 137
paths to the root