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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Amz2
archaelysin family metallopeptidase 2
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
NCBI chr10:94,901,053...94,911,629
Ensembl chr10:94,901,129...94,911,627
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022
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Dazap1
DAZ associated protein 1
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
NCBI chr 7:9,423,673...9,448,116
Ensembl chr 7:10,074,849...10,095,599
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Fcnb
ficolin B
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
NCBI chr 3:31,791,750...31,800,188
Ensembl chr 3:31,791,750...31,800,188
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Klhl6
kelch-like family member 6
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
NCBI chr11:94,475,262...94,514,653
Ensembl chr11:94,475,262...94,514,623
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Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
PMID:8755249 PMID:21378985 PMID:21378989 PMID:22891273 PMID:22891276 PMID:25741868 PMID:27312922 PMID:28492532 More...
NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:188,299,336...188,432,823
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Rapgef1
Rap guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
NCBI chr 3:33,296,211...33,414,119
Ensembl chr 3:33,296,230...33,414,119
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Sec14l1
SEC14-like lipid binding 1
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
NCBI chr10:102,818,693...102,865,841
Ensembl chr10:102,818,693...102,865,839
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Slc35a5
solute carrier family 35, member A5
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
NCBI chr11:69,159,435...69,180,503
Ensembl chr11:69,159,384...69,180,502
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Sp4
Sp4 transcription factor
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
NCBI chr 6:145,330,416...145,395,750
Ensembl chr 6:145,330,416...145,395,146
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Tmed9
transmembrane p24 trafficking protein 9
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
NCBI chr17:9,034,797...9,039,311
Ensembl chr17:9,034,823...9,039,319
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Vmp1
vacuole membrane protein 1
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
NCBI chr10:71,903,223...72,002,337
Ensembl chr10:71,903,227...72,002,319
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