Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | acute myeloid leukemia | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar | | adenoid cystic carcinoma | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adenoid cystic carcinoma | ClinVar | | anterior segment dysgenesis 8 | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anterior segment dysgenesis 8 | ClinVar | PMID:25741868 | autistic disorder | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | cataract | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital cataract | ClinVar | PMID:24728327 more ... | cerebellar hypoplasia | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia | ClinVar | PMID:25741868 | coronin-1A deficiency | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION | ClinVar | PMID:24728327 more ... | genetic disease | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:24728327 more ... | intellectual disability | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 and PMID:28492532 | Neurodevelopmental Disorders | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | ornithine carbamoyltransferase deficiency | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency | ClinVar | PMID:11793468 more ... | syndromic microphthalmia 1 | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microphthalmia and syndromic 1 | ClinVar | PMID:24728327 more ... | syndromic microphthalmia 2 | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15004558 more ... | syndromic X-linked intellectual disability Hedera type | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type | ClinVar | PMID:23901204 more ... | syndromic X-linked intellectual disability Lubs type | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | syndromic X-linked intellectual disability Najm type | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability more ... | ClinVar | PMID:23901204 and PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
Disease Annotations
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Gene Ontology Annotations
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Biological Process
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Molecular Function
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Phenotype Annotations
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Mammalian Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Genome-wide analysis of DNA methylation in subjects with type 1 diabetes identifies epigenetic modifications associated with proliferative diabetic retinopathy. | Agardh E, etal., BMC Med. 2015 Aug 6;13:182. doi: 10.1186/s12916-015-0421-5. |
| 2. | Inhibition of the transcriptional repressor complex Bcl-6/BCoR induces endothelial sprouting but does not promote tumor growth. | Buchberger E, etal., Oncotarget. 2017 Jan 3;8(1):552-564. doi: 10.18632/oncotarget.13477. |
| 3. | Identification of molecular features correlating with tumor immunity in gastric cancer by multi-omics data analysis. | He Y and Wang X, Ann Transl Med. 2020 Sep;8(17):1050. doi: 10.21037/atm-20-922. |
| 4. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 5. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 6. | Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. | Ng D, etal., Nat Genet. 2004 Apr;36(4):411-6. Epub 2004 Mar 7. |
| 7. | Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. | Okazaki N, etal., DNA Res 2003 Aug 31;10(4):167-80. |
| 8. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 9. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 10. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 11. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 12. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 13. | Comprehensive mutation profiling of mucinous gastric carcinoma. | Rokutan H, etal., J Pathol. 2016 Oct;240(2):137-48. doi: 10.1002/path.4761. Epub 2016 Sep 19. |
| 14. | Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition. | Zeng Z, etal., J Dent Res. 2013 May;92(5):432-7. doi: 10.1177/0022034513481976. Epub 2013 Mar 7. |
Additional References at PubMed
| PMID:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11544199 | PMID:12477932 | PMID:12520002 | PMID:12522145 | PMID:12776190 | PMID:12904583 | PMID:14610273 | PMID:15489334 |
| PMID:15747579 | PMID:16141072 | PMID:16141073 | PMID:16602821 | PMID:17296600 | PMID:17344103 | PMID:18795143 | PMID:18799693 | PMID:20059953 | PMID:20436479 | PMID:20548051 | PMID:20563598 |
| PMID:21267068 | PMID:21677750 | PMID:21873635 | PMID:22253232 | PMID:22496869 | PMID:23892456 | PMID:24952961 | PMID:25331958 | PMID:25490446 | PMID:25964495 | PMID:26221038 | PMID:26847029 |
| PMID:27694924 | PMID:27705745 | PMID:27869233 | PMID:28262675 | PMID:28671696 | PMID:28827447 | PMID:30228234 | PMID:30457570 | PMID:30902969 | PMID:30992267 | PMID:31053612 | PMID:31471323 |
| PMID:32692983 | PMID:32820036 | PMID:32954361 | PMID:33159179 | PMID:34321999 | PMID:34709266 | PMID:36070393 |
Genomics
Comparative Map Data
| Bcor (Mus musculus - house mouse) |
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| BCOR (Homo sapiens - human) |
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| Bcor (Rattus norvegicus - Norway rat) |
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| Bcor (Chinchilla lanigera - long-tailed chinchilla) |
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| BCOR (Pan paniscus - bonobo/pygmy chimpanzee) |
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| BCOR (Canis lupus familiaris - dog) |
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| Bcor (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| BCOR (Sus scrofa - pig) |
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| BCOR (Chlorocebus sabaeus - green monkey) |
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| Bcor (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Bcor
3131 total Variants 
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