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: Neisseriaceae Infections
Accession: DOID:9008538
browse the term
Definition: Infections with bacteria of the family NEISSERIACEAE.
Synonyms: exact_synonym: Neisseriaceae Infection
primary_id: MESH:D016870 ; RDO:0005693
xref: EFO:1001377
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C8A
complement C8 alpha chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9759902
NCBI chr 5:52,584,707...52,649,612
Ensembl chr 5:52,584,934...52,653,794
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C8B
complement C8 beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8098723
NCBI chr 5:52,535,359...52,574,872
Ensembl chr 5:52,532,481...52,574,182
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CD40
CD40 molecule
ISO
RGD
PMID:19202131
RGD:5132273
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
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CFD
complement factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11457876
NCBI chr20:57,785,297...57,787,773
Ensembl chr20:57,657,154...57,787,713
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ACE
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11956052
NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
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ADD1
adducin 1
ISO
DNA:missense mutation:cds:p.G460W (human)
RGD
PMID:18679149
RGD:5147999
NCBI chr 3:61,356,643...61,443,851
Ensembl chr 3:61,358,162...61,474,830
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C3
complement C3
severity
ISO
RGD
PMID:3491693
RGD:11041157
NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
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CFB
complement factor B
severity
ISO
RGD
PMID:3491693
RGD:11041157
NCBI chr12:1,400,143...1,406,267
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CFD
complement factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16527897
NCBI chr20:57,785,297...57,787,773
Ensembl chr20:57,657,154...57,787,713
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CFH
complement factor H
treatment exacerbates
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19047406 PMID:20694013 PMID:25143339
RGD:108019051 RGD:11041174
NCBI chr38:2,878,677...2,956,226
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CPB2
carboxypeptidase B2
ISO
RGD
PMID:14717966
RGD:1598478
NCBI chr22:5,074,805...5,126,635
Ensembl chr22:5,074,816...5,126,170
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IL4
interleukin 4
susceptibility
ISO
DNA:SNP:promoter:-524C>T(human)
RGD
PMID:20016407
RGD:14696700
NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
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C9
complement C9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9570574
NCBI chr 4:69,660,861...69,719,793
Ensembl chr 4:69,660,907...69,719,562
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CFP
complement factor properdin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8530058 PMID:10909851
NCBI chr X:41,245,868...41,252,194
Ensembl chr X:41,245,905...41,251,623
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LOC609365
CD46 molecule, complement regulatory protein-like
ISO
RGD
PMID:12869763
RGD:6483466
NCBI chr 7:6,602,762...6,646,561
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MARCO
macrophage receptor with collagenous structure
ISO
protein:increased expression:sub-cortical, meninges, astrocyte
RGD
PMID:21299846
RGD:41412190
NCBI chr19:30,996,209...31,034,520
Ensembl chr19:30,996,347...31,034,487
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MMP13
matrix metallopeptidase 13
ISO
RGD
PMID:10430840
RGD:8547971
NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121
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MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:10430840
RGD:8547971
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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NOD2
nucleotide binding oligomerization domain containing 2
susceptibility
ISO
DNA:SNP,haplotype: :SNP8(human)
RGD
PMID:23691182
RGD:7800668
NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232
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SLC11A1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282
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TLR2
toll like receptor 2
susceptibility
ISO
DNA:haplotype: :2477G>A(rs5743708)(human)
RGD
PMID:23691182
RGD:7800668
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
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TLR4
toll like receptor 4
susceptibility
ISO
DNA:SNP,haplotype: :896A>G(rs4986790)(human)
RGD
PMID:23691182
RGD:7800668
NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
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