Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | BAG6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | megacolon | | ISO | BAG6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Megacolon | ClinVar | PMID:21681106 | periventricular nodular heterotopia | | ISO | BAG6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar | PMID:31474318 | proteasome-associated autoinflammatory syndrome 1 | | ISO | BAG6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Susceptibility to large-joint osteoarthritis (hip and knee) is associated with BAG6 rs3117582 SNP and the VNTR polymorphism in the second exon of the FAM46A gene on chromosome 6. | Etokebe GE, etal., J Orthop Res. 2015 Jan;33(1):56-62. doi: 10.1002/jor.22738. Epub 2014 Sep 18. |
| 2. | Association of the FAM46A gene VNTRs and BAG6 rs3117582 SNP with non small cell lung cancer (NSCLC) in Croatian and Norwegian populations. | Etokebe GE, etal., PLoS One. 2015 Apr 17;10(4):e0122651. doi: 10.1371/journal.pone.0122651. eCollection 2015. |
| 3. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 4. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
| 5. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 6. | Oligomeric structure and tissue distribution of ficolins from mouse, pig and human. | Ohashi T and Erickson HP, Arch Biochem Biophys 1998 Dec 15;360(2):223-32. |
| 7. | 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. |
| 8. | Cloning and characterization of rat BAT3 cDNA. | Ozaki T, etal., DNA Cell Biol 1999 Jun;18(6):503-12. |
| 9. | BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT. | Piras IS, etal., Bone Marrow Transplant. 2014 Nov;49(11):1400-1404. doi: 10.1038/bmt.2014.177. Epub 2014 Aug 11. |
| 10. | Comparative analysis of apoptosis and inflammation genes of mice and humans. | Reed JC, etal., Genome Res 2003 Jun;13(6B):1376-88. |
| 11. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 12. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 13. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 14. | NKp30 isoforms and NKp30 ligands are predictive biomarkers of response to imatinib mesylate in metastatic GIST patients. | Rusakiewicz S, etal., Oncoimmunology. 2016 Apr 25;6(1):e1137418. doi: 10.1080/2162402X.2015.1137418. eCollection 2017. |
| 15. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
Additional References at PubMed
| PMID:1351875 | PMID:7854331 | PMID:7993390 | PMID:8761950 | PMID:8889548 | PMID:9021146 | PMID:9196000 | PMID:10349636 | PMID:10469308 | PMID:10773876 | PMID:10871872 | PMID:11042159 |
| PMID:11063033 | PMID:11076861 | PMID:14610273 | PMID:15102471 | PMID:15782199 | PMID:16141072 | PMID:16141073 | PMID:16287848 | PMID:16602821 | PMID:17403783 | PMID:18056262 | PMID:18487607 |
| PMID:18678708 | PMID:18765639 | PMID:19357808 | PMID:20713601 | PMID:21460186 | PMID:21873635 | PMID:22130070 | PMID:22808273 | PMID:22863785 | PMID:24457600 | PMID:24591579 | PMID:24852146 |
| PMID:25535373 | PMID:25713138 | PMID:26598275 | PMID:26663859 | PMID:26692333 | PMID:27501752 | PMID:27739607 | PMID:28190767 | PMID:28378742 | PMID:28380258 | PMID:29459677 | PMID:30409884 |
| PMID:30457570 | PMID:30550785 | PMID:31911483 | PMID:32325033 | PMID:32991875 | PMID:34968777 | PMID:35275752 | PMID:35688694 | PMID:36045679 | PMID:38498560 |
Genomics
Comparative Map Data
| Bag6 (Mus musculus - house mouse) |
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| BAG6 (Homo sapiens - human) |
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| Bag6 (Rattus norvegicus - Norway rat) |
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| Bag6 (Chinchilla lanigera - long-tailed chinchilla) |
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| BAG6 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| BAG6 (Canis lupus familiaris - dog) |
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| Bag6 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| BAG6 (Sus scrofa - pig) |
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| BAG6 (Chlorocebus sabaeus - green monkey) |
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| Bag6 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Bag6
1 total Variants 
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