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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Chd6
chromodomain helicase DNA binding protein 6
ISO
ClinVar Annotator: match by term: Adult spinal cord ependymoma
ClinVar
NCBI chr 3:149,596,509...149,757,765
Ensembl chr 3:149,596,509...149,757,755
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Men1
menin 1
ISO
associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: :
RGD
PMID:17135306
RGD:2317341
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Duodenal adenocarcinoma
ClinVar
PMID:24033266 PMID:25741868 PMID:26530882 PMID:28195569 PMID:28492532 PMID:30111351 PMID:30833958 More...
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
DNA:mutations:multiple (human)
RGD
PMID:27600764
RGD:150429643
NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Gstm1
glutathione S-transferase mu 1
ISO
RGD
PMID:12940438
RGD:14700963
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Map2k1
mitogen activated protein kinase kinase 1
ISO
RGD
PMID:19014680
RGD:13464351
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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Map2k2
mitogen activated protein kinase kinase 2
ISO
RGD
PMID:19014680
RGD:13464351
NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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Arid1a
AT-rich interaction domain 1A
exacerbates
ISO
protein:decreased expression:small intestine (human)
RGD
PMID:25400081
RGD:126781719
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all