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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Bub1b
BUB1 mitotic checkpoint serine/threonine kinase B
ISO
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:15475955 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
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Cep57
centrosomal protein 57
ISO
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:21552266 PMID:28553959
NCBI chr 8:10,669,588...10,689,257
Ensembl chr 8:10,669,590...10,689,249
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Trip13
thyroid hormone receptor interactor 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28553959
NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074
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Bub1b
BUB1 mitotic checkpoint serine/threonine kinase B
ISO
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1
OMIM ClinVar
PMID:9521327 PMID:9536098 PMID:9889005 PMID:9916837 PMID:11169558 PMID:15475955 PMID:16199547 PMID:16411201 PMID:17576681 PMID:18548531 PMID:20516114 PMID:21190457 PMID:21520333 PMID:24033266 PMID:24728327 PMID:25502805 PMID:25640679 PMID:25741868 PMID:26822237 PMID:27239782 PMID:28492532 PMID:28591191 PMID:28767289 PMID:29625052 More...
NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
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Cep57
centrosomal protein 57
ISO
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1
ClinVar
PMID:12116237 PMID:21552266 PMID:24259107 PMID:25741868 PMID:28492532
NCBI chr 8:10,669,588...10,689,257
Ensembl chr 8:10,669,590...10,689,249
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Pak6
p21 (RAC1) activated kinase 6
ISO
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1
ClinVar
PMID:28492532
NCBI chr 3:105,638,248...105,674,399
Ensembl chr 3:105,638,653...105,672,975
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Cep57
centrosomal protein 57
ISO
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2
OMIM ClinVar
PMID:9536098 PMID:12116237 PMID:17576681 PMID:21552266 PMID:24259107 PMID:25741868 PMID:28492532 More...
NCBI chr 8:10,669,588...10,689,257
Ensembl chr 8:10,669,590...10,689,249
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Mtmr2
myotubularin related protein 2
ISO
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2
ClinVar
PMID:28492532
NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172
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Trip13
thyroid hormone receptor interactor 13
ISO
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 3
OMIM ClinVar
PMID:25741868 PMID:28553959 PMID:32473092
NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074
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Cenatac
centrosomal AT-AC splicing factor
ISO
OMIM
NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
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Slf2
SMC5-SMC6 complex localization factor 2
ISO
OMIM
NCBI chr 1:243,782,781...243,845,409
Ensembl chr 1:243,782,246...243,845,250
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Smc5
structural maintenance of chromosomes 5
ISO
OMIM
NCBI chr 1:220,769,366...220,839,138
Ensembl chr 1:220,769,366...220,839,096
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Mad1l1
mitotic arrest deficient 1 like 1
ISO
OMIM
NCBI chr12:14,320,892...14,630,750
Ensembl chr12:14,320,892...14,630,703
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