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.
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11971877 PMID:14595024 PMID:15580218 PMID:16527883 PMID:17576681 PMID:19673875 PMID:19934105 PMID:20506269 PMID:22161697 PMID:22513199 PMID:23571383 PMID:25741868 PMID:25845478 PMID:26025129 PMID:26386126 PMID:27106250 PMID:27577878 PMID:28166811 PMID:28492532 PMID:28628471 PMID:28960754 PMID:29150835 PMID:29432774 PMID:30198636 PMID:30290665 PMID:31119601 PMID:31443670 PMID:31789267 PMID:32054657 PMID:32441320 PMID:33597285 PMID:34399798 PMID:34620178 More...
NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
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Mefv
MEFV innate immuity regulator, pyrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:skin
RGD
PMID:21658319
RGD:8657060
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:skin
RGD
PMID:21658319
RGD:8657060
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
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