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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:Meningococcal Infections
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Accession:DOID:9008366 term browser browse the term
Definition:Infections with bacteria of the species NEISSERIA MENINGITIDIS.
Synonyms:exact_synonym: Meningococcal Infection
 primary_id: MESH:D008589;   RDO:0006108
 xref: EFO:0004249


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Meningococcal Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:11956052 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Add1 adducin 1 ISO DNA:missense mutation:cds:p.G460W (human) RGD PMID:18679149 RGD:5147999 NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182 		JBrowse link
G C3 complement C3 severity ISO RGD PMID:3491693 RGD:11041157 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cfb complement factor B severity ISO RGD PMID:3491693 RGD:11041157 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cfd complement factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:16527897 NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053 		JBrowse link
G Cfh complement factor H treatment
exacerbates		 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20694013 PMID:25143339 PMID:19047406 RGD:11041174, RGD:108019051 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Cpb2 carboxypeptidase B2 ISO RGD PMID:14717966 RGD:1598478 NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556 		JBrowse link
G Fcgr2a Fc gamma receptor 2A severity ISO associated with complement deficiency;DNA:missense mutation:cds:p.H131R (human)
DNA:polymorphism:cds:p.H131R (human)		 RGD PMID:10792385 PMID:11812402 RGD:5147980, RGD:11040998 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Il4 interleukin 4 susceptibility ISO DNA:SNP:promoter:-524C>T(human) RGD PMID:20016407 RGD:14696700 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
meningococcal meningitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C9 complement C9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9570574 NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338 		JBrowse link
G Cd46 CD46 molecule ISO RGD PMID:12869763 RGD:6483466 NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cfp complement factor properdin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8530058 PMID:10909851 NCBI chr  X:1,162,014...1,167,576
Ensembl chr  X:1,161,979...1,167,573 		JBrowse link
G Marco macrophage receptor with collagenous structure IEP protein:increased expression:sub-cortical, meninges, astrocyte RGD PMID:21299846 RGD:41412190 NCBI chr13:31,616,278...31,648,521
Ensembl chr13:31,616,278...31,648,521 		JBrowse link
G Mmp13 matrix metallopeptidase 13 IEP RGD PMID:10430840 RGD:8547971 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP RGD PMID:10430840 RGD:8547971 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility ISO DNA:SNP,haplotype: :SNP8(human) RGD PMID:23691182 RGD:7800668 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO DNA:haplotype: :2477G>A(rs5743708)(human) RGD PMID:23691182 RGD:7800668 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:SNP,haplotype: :896A>G(rs4986790)(human) RGD PMID:23691182 RGD:7800668 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease by infectious agent 2211
      Bacterial Infections and Mycoses 1072
        bacterial infectious disease 823
          Gram-Negative Bacterial Infections 200
            Neisseriaceae Infections 22
              Meningococcal Infections 19
                meningococcal meningitis + 10
paths to the root