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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:Parasitemia
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Accession:DOID:9000518 term browser browse the term
Definition:The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)
Synonyms:exact_synonym: parasitemias
 primary_id: MESH:D018512

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cerebral malaria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace2 angiotensin converting enzyme 2 susceptibility ISO DNA:SNP:intron 1: C>T RGD PMID:20117248 RGD:40818420 NCBI chrNW_004955519:2,591,229...2,643,705
Ensembl chrNW_004955519:2,591,248...2,633,495 		JBrowse link
G Aqp4 aquaporin 4 disease_progression ISO protein:increased expression:astrocyte: RGD PMID:21904632 RGD:8698661 NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709 		JBrowse link
G Cast calpastatin ISO protein:increased express:brain RGD PMID:16236382 RGD:5509817 NCBI chrNW_004955418:15,859,951...15,974,141
Ensembl chrNW_004955418:15,862,729...15,916,169 		JBrowse link
G Cd36 CD36 molecule (CD36 blood group) ISO RGD PMID:17367535 RGD:6893527 NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313 		JBrowse link
G Il1rl1 interleukin 1 receptor like 1 treatment ISO RGD PMID:25682948 RGD:40400741 NCBI chrNW_004955470:7,779,828...7,849,157 JBrowse link
G Il33 interleukin 33 treatment ISO protein:increased expression:brain RGD PMID:25659095 PMID:25682948 RGD:39938955 RGD:40400741 NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948 		JBrowse link
G Jak3 Janus kinase 3 ISO RGD PMID:22363534 RGD:11531103 NCBI chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643 		JBrowse link
G Lta lymphotoxin alpha ISO RGD PMID:12021316 RGD:10449455 NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529 		JBrowse link
G Nrg1 neuregulin 1 treatment ISO mRNA, protein:increased expression:cerebral cortex (mouse)
human protein in a mouse model		 RGD PMID:24433482 PMID:29636063 RGD:39456084 RGD:39456102 NCBI chrNW_004955463:8,009,436...9,037,116
Ensembl chrNW_004955463:8,009,530...9,037,116 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:25775137 RGD:38599200 NCBI chrNW_004955410:11,402,476...11,433,335
Ensembl chrNW_004955410:11,402,520...11,437,422 		JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 ISO mRNA:decreased expression:brain (mouse) RGD PMID:29107705 RGD:39456137 NCBI chrNW_004955464:2,996,608...3,062,197
Ensembl chrNW_004955464:3,003,837...3,062,197 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:12228317 RGD:5131158 NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362 		JBrowse link
malaria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 treatment
susceptibility		 ISO DNA:SNP: :c3435C>T(human)
DNA:hypermethylation:promoter
DNA:SNPs,haplotype: :rs2032582, rs1128503 (human)
DNA:haplotype: :1236C>T, 2677G>T,3435C>T (human) 		RGD PMID:17015054 PMID:19331170 PMID:28422980 PMID:28934955 RGD:39456120 RGD:39456123 RGD:39457679 RGD:39457680 NCBI chrNW_004955432:4,911,774...5,085,349 JBrowse link
G Ackr1 atypical chemokine receptor 1 (Duffy blood group) ISO ClinVar Annotator: match by term: Plasmodium vivax, resistance to ClinVar
OMIM		 PMID:7663520 PMID:8547665 PMID:8651934 PMID:10570183 PMID:10791881 More... NCBI chrNW_004955468:10,994,372...10,997,434
Ensembl chrNW_004955468:10,995,941...11,001,094 		JBrowse link
G Ank1 ankyrin 1 ISO OMIM:609148 | OMIM:611162 MouseDO NCBI chrNW_004955536:1,049,325...1,237,943
Ensembl chrNW_004955536:1,049,407...1,237,943 		JBrowse link
G Apoe apolipoprotein E ISO DNA:missense mutations:cds:p.C112R, p.C158R (human) RGD PMID:24116184 RGD:11039486 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888 		JBrowse link
G Aqp4 aquaporin 4 ISO OMIM:609148 | OMIM:611162 MouseDO NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709 		JBrowse link
G Cbs cystathionine beta-synthase susceptibility ISO DNA:insertion:cds: (844ins68) (human) RGD PMID:27198213 RGD:40903062 NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790 		JBrowse link
G Cd36 CD36 molecule (CD36 blood group) susceptibility ISO ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to | ClinVar Annotator: match by term: Malaria, susceptibility to ClinVar
OMIM		 PMID:10890433 PMID:18305138 PMID:19403559 PMID:25741868 PMID:28960434 More... NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313 		JBrowse link
G Cd40 CD40 molecule severity ISO RGD PMID:11485931 RGD:11352239 NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093 		JBrowse link
G Cd40lg CD40 ligand severity ISO RGD PMID:11485931 RGD:11352239 NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746 		JBrowse link
G Cish cytokine inducible SH2 containing protein susceptibility ISO ClinVar Annotator: match by term: Malaria, susceptibility to OMIM
ClinVar		 PMID:20484391 NCBI chrNW_004955532:2,380,380...2,386,000
Ensembl chrNW_004955532:2,378,088...2,386,000 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 treatment
disease_progression		 ISO RGD PMID:28892065 RGD:38455986 NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460 		JBrowse link
G Ephb2 EPH receptor B2 ISO mRNA:increased expression:liver RGD PMID:25784101 RGD:127285023 NCBI chrNW_004955452:2,844,713...2,986,790
Ensembl chrNW_004955452:2,844,713...2,980,445 		JBrowse link
G Ephb3 EPH receptor B3 ISO RGD PMID:25784101 RGD:127285023 NCBI chrNW_004955420:22,900,588...22,919,924
Ensembl chrNW_004955420:22,901,337...22,920,712 		JBrowse link
G Ephb6 EPH receptor B6 ISO RGD PMID:25784101 RGD:127285023 NCBI chrNW_004955494:812,482...820,679
Ensembl chrNW_004955494:812,855...820,475 		JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb ISO ClinVar Annotator: match by term: Malaria, resistance to ClinVar
OMIM		 PMID:12115230 PMID:15459183 PMID:16115811 PMID:16170323 PMID:17435165 More... NCBI chrNW_004955462:14,639,396...14,653,801 JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO RGD PMID:16169501 PMID:19338000 RGD:38455985 RGD:38455992 NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase severity
susceptibility		 ISO DNA:point mutation:cds:c.968T>C (human)
ClinVar Annotator: match by term: Malaria, susceptibility to
DNA:SNPs: :multiple		 RGD
ClinVar
OMIM		 PMID:5448 PMID:16832 PMID:511159 PMID:736032 PMID:853376 More... RGD:10449111 RGD:10449115 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083 		JBrowse link
G Gypc glycophorin C (Gerbich blood group) ISO ClinVar Annotator: match by term: Malaria, resistance to ClinVar
OMIM		 PMID:1991173 PMID:5011657 PMID:8157284 PMID:11719395 PMID:12469115 More... NCBI chrNW_004955459:3,748,272...3,754,402 JBrowse link
G Hbb hemoglobin subunit beta resistance ISO Hemoglobin C; DNA:polymorphism:CDS:69G>A, amino acid E6K
ClinVar Annotator: match by term: Malaria, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to		 RGD
ClinVar
OMIM		 PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:893136 More... RGD:1600894 NCBI chrNW_004955414:21,188,012...21,189,363 JBrowse link
G Hmox1 heme oxygenase 1 ISO OMIM:609148 | OMIM:611162 MouseDO NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979 		JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility ISO ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to | ClinVar Annotator: match by term: Malaria, susceptibility to OMIM
ClinVar		 PMID:9259284 PMID:9861406 PMID:10417733 PMID:10699175 PMID:23609612 More... NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755 		JBrowse link
G Ifng interferon gamma ISO OMIM:609148 | OMIM:611162 MouseDO NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Malaria, susceptibility to ClinVar PMID:1945893 PMID:3198117 PMID:6805883 PMID:7803800 PMID:8244337 More... NCBI chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802 		JBrowse link
G Il1rl1 interleukin 1 receptor like 1 ISO RGD PMID:28359899 RGD:39938859 NCBI chrNW_004955470:7,779,828...7,849,157 JBrowse link
G Il21 interleukin 21 exacerbates ISO RGD PMID:25763578 RGD:127285358 NCBI chrNW_004955428:18,057,096...18,065,492
Ensembl chrNW_004955428:18,057,096...18,065,492 		JBrowse link
G Il27 interleukin 27 ameliorates ISO RGD PMID:24522137 PMID:26968425 RGD:11530371 RGD:126790512 NCBI chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417 		JBrowse link
G Il33 interleukin 33 ISO protein:increased expression:serum: RGD PMID:28359899 RGD:39938859 NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948 		JBrowse link
G Ltbr lymphotoxin beta receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15788153 NCBI chrNW_004955413:4,031,659...4,038,396
Ensembl chrNW_004955413:4,031,754...4,038,992 		JBrowse link
G Mapkapk3 MAPK activated protein kinase 3 ISO ClinVar Annotator: match by term: Malaria, susceptibility to ClinVar PMID:20484391 NCBI chrNW_004955532:2,392,539...2,419,219
Ensembl chrNW_004955532:2,392,539...2,420,604 		JBrowse link
G Mki67 marker of proliferation Ki-67 ISO associated with Lung Neoplasms RGD PMID:21931708 RGD:6483517 NCBI chrNW_004955477:5,847,288...5,875,970 JBrowse link
G Ncr3 natural cytotoxicity triggering receptor 3 susceptibility ISO ClinVar Annotator: match by term: Malaria, severe, susceptibility to OMIM
ClinVar		 PMID:17208487 NCBI chrNW_004955437:130,360...134,751 JBrowse link
G Nos2 nitric oxide synthase 2 ISO ClinVar Annotator: match by term: Malaria, resistance to | ClinVar Annotator: match by term: Malaria, severe, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to ClinVar
OMIM		 PMID:9457101 PMID:12433515 PMID:31995689 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961 		JBrowse link
G Pklr pyruvate kinase L/R susceptibility ISO DNA:missense mutation:cds:p.I90N (mouse)
OMIM:609148 | OMIM:611162
DNA:mutations, haplotype:multiple (human)		 RGD
MouseDO		 PMID:14595440 PMID:20377593 RGD:11535999 RGD:11537407 NCBI chrNW_004955545:1,742,432...1,749,632
Ensembl chrNW_004955545:1,739,152...1,749,632 		JBrowse link
G Prf1 perforin 1 ISO RGD PMID:21525386 RGD:6482803 NCBI chrNW_004955437:20,700,912...20,705,076
Ensembl chrNW_004955437:20,700,718...20,706,929 		JBrowse link
G Procr protein C receptor disease_progression ISO RGD PMID:27671831 RGD:126848795 NCBI chrNW_004955422:26,215,757...26,220,396
Ensembl chrNW_004955422:26,216,002...26,220,101 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO DNA:SNP::g.80G>A (human) RGD PMID:27198213 RGD:40903062 NCBI chrNW_004955407:42,132,216...42,154,252
Ensembl chrNW_004955407:42,132,165...42,141,992 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Malaria, cerebral, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to ClinVar PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:6338046 More... NCBI chrNW_004955451:17,318,600...17,330,943
Ensembl chrNW_004955451:17,315,024...17,328,103 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16552072 RGD:1581333 NCBI chrNW_004955474:1,914,477...1,922,025
Ensembl chrNW_004955474:1,913,829...1,922,016 		JBrowse link
G Tbx21 T-box transcription factor 21 ISO RGD PMID:19338000 RGD:38455985 NCBI chrNW_004955451:13,315,237...13,317,888
Ensembl chrNW_004955451:13,315,859...13,325,937 		JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Malaria, resistance to ClinVar
OMIM		 PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868 NCBI chrNW_004955412:27,303,548...27,315,031
Ensembl chrNW_004955412:27,312,489...27,315,031 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to OMIM
ClinVar		 PMID:8056188 PMID:9818939 PMID:10369255 PMID:10450718 PMID:11261930 More... NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Tslp thymic stromal lymphopoietin ISO mRNA:altered expression:multiple (mouse) RGD PMID:28955823 RGD:38596344 NCBI chrNW_004955418:4,041,529...4,045,534 JBrowse link
Malarial Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) severity ISO DNA:snp:promoter:g.-5699T>C (human) RGD PMID:16960783 RGD:10450507 NCBI chrNW_004955451:17,318,600...17,330,943
Ensembl chrNW_004955451:17,315,024...17,328,103 		JBrowse link
G Tlr9 toll like receptor 9 susceptibility ISO DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) RGD PMID:23045477 RGD:11344971 NCBI chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582 		JBrowse link
Plasmodium falciparum malaria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO protein:decreased activity:plasma (human) RGD PMID:20062916 RGD:10449041 NCBI chrNW_004955513:2,761,386...2,786,447
Ensembl chrNW_004955513:2,764,186...2,786,187 		JBrowse link
G Bsg basigin (Ok blood group) ISO CTD Direct Evidence: therapeutic CTD PMID:22080952 PMID:26195724 NCBI chrNW_004955495:7,148,806...7,156,296 JBrowse link
G Cast calpastatin ISO protein:alter localization:erythrocyte RGD PMID:17359359 RGD:5509812 NCBI chrNW_004955418:15,859,951...15,974,141
Ensembl chrNW_004955418:15,862,729...15,916,169 		JBrowse link
G Clec11a C-type lectin domain containing 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19884328 NCBI chrNW_004955559:515,341...517,521
Ensembl chrNW_004955559:514,134...517,787 		JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21625619 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase severity ISO DNA:missense mutation:cds:202G>A (p.V68M) (human) RGD PMID:24943486 RGD:10449113 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 severity ISO RGD PMID:19635899 RGD:10450848 NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428 		JBrowse link
G Hbb hemoglobin subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20305663 NCBI chrNW_004955414:21,188,012...21,189,363 JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:plasma RGD PMID:21985368 RGD:5684362 NCBI chrNW_004955408:4,046,406...4,049,795 JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:haplotype:exon: RGD PMID:18396436 RGD:11530064 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006 		JBrowse link
G Tnf tumor necrosis factor severity ISO protein:increased expression:plasma RGD PMID:1984482 RGD:10450571 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
Plasmodium vivax malaria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr1 atypical chemokine receptor 1 (Duffy blood group) ISO ClinVar Annotator: match by term: Resistance to Plasmodium vivax infection OMIM
ClinVar		 PMID:7663520 PMID:8547665 PMID:8651934 PMID:10570183 PMID:10791881 More... NCBI chrNW_004955468:10,994,372...10,997,434
Ensembl chrNW_004955468:10,995,941...11,001,094 		JBrowse link
Pregnancy-associated Malaria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 ISO RGD PMID:24717969 RGD:11041890 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease by infectious agent 1919
      parasitic infectious disease 262
        Parasitemia 59
          malaria + 59
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Pathologic Processes 6870
        Shock 348
          Systemic Inflammatory Response Syndrome 332
            Sepsis 330
              Parasitemia 59
                malaria + 59
paths to the root