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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Ercc6
ERCC excision repair 6, chromatin remodeling factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26972010
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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Ercc8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859
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Uvssa
UV-stimulated scaffold protein A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22466610 PMID:22466612
NCBI chr14:77,309,188...77,351,922
Ensembl chr14:77,314,056...77,351,903
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
ISO
ClinVar Annotator: match by term: UV-SENSITIVE SYNDROME 1 | ClinVar Annotator: match by term: UV-sensitive syndrome 1
OMIM ClinVar
PMID:7264357 PMID:9443879 PMID:9777763 PMID:10196384 PMID:10767341 PMID:15486090 PMID:16199547 PMID:18414213 PMID:18628313 PMID:18784753 PMID:19894250 PMID:21143350 PMID:22466610 PMID:22483866 PMID:22661500 PMID:22904069 PMID:23311583 PMID:24154677 PMID:25136123 PMID:25741868 PMID:25820262 PMID:28492532 PMID:29572252 PMID:30111349 More...
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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Ercc8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
ISO
ClinVar Annotator: match by term: UV-sensitive syndrome 2
OMIM ClinVar
PMID:18414213 PMID:19329487 PMID:25741868 PMID:28492532
NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859
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Uvssa
UV-stimulated scaffold protein A
ISO
ClinVar Annotator: match by term: UV-sensitive syndrome 3
OMIM ClinVar
PMID:3774595 PMID:3974603 PMID:7513056 PMID:10771487 PMID:19329487 PMID:22466610 PMID:22466612 PMID:25741868 More...
NCBI chr14:77,309,188...77,351,922
Ensembl chr14:77,314,056...77,351,903
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all