Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | cataract 10 multiple types | | ISO | CRYBA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cataract 10 multiple types | ClinVar | PMID:11006214 more ... | genetic disease | | ISO | CRYBA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11006214 more ... | neurofibromatosis 1 | | ISO | CRYBA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurofibromatosis and type 1 | ClinVar | PMID:10712197 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Crystallin gene expression during rat lens development. | Aarts HJ, etal., Eur J Biochem 1989 Jul 15;183(1):31-6. |
| 2. | Different evolution rates within the lens-specific beta-crystallin gene family. | Aarts HJ, etal., J Mol Evol 1989 Apr;28(4):313-21. |
| 3. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 4. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 5. | Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse. | Graw J, etal., Genomics 1999 Nov 15;62(1):67-73. |
| 6. | A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree. | Gu Z, etal., Mol Vis. 2010 Feb 5;16:154-60. |
| 7. | Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. | Litt M, etal., Hum Mol Genet. 1997 May;6(5):665-8. |
| 8. | betaA3/A1-Crystallin controls anoikis-mediated cell death in astrocytes by modulating PI3K/AKT/mTOR and ERK survival pathways through the PKD/Bit1-signaling axis. | Ma B, etal., Cell Death Dis. 2011 Oct 13;2:e217. doi: 10.1038/cddis.2011.100. |
| 9. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 10. | Mouse Genome Database (MGD) | Mouse Genome Database (MGD) |
| 11. | Retinal gene profiling in a hereditary rodent model of elevated intraocular pressure. | Naskar R and Thanos S, Mol Vis. 2006 Oct 18;12:1199-210. |
| 12. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 13. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 14. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 15. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 16. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 17. | A spontaneous mutation affects programmed cell death during development of the rat eye. | Sinha D, etal., Exp Eye Res. 2005 Mar;80(3):323-35. doi: 10.1016/j.exer.2004.09.014. |
| 18. | betaA3/A1-crystallin in astroglial cells regulates retinal vascular remodeling during development. | Sinha D, etal., Mol Cell Neurosci. 2008 Jan;37(1):85-95. Epub 2007 Aug 31. |
| 19. | Establishment of a recessive mutant small-eye rat with lens involution and retinal detachment associated with partial deletion and rearrangement of the Cryba1 gene. | Yamada T, etal., Biochem J. 2015 Oct 15;471(2):293-305. doi: 10.1042/BJ20150165. Epub 2015 Aug 24. |
| 20. | A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family. | Yang G, etal., Mol Vis. 2011;17:1559-63. Epub 2011 Jun 9. |
| 21. | A G-->T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family. | Yang Z, etal., Mol Vis. 2011;17:2065-71. Epub 2011 Aug 5. |
| 22. | A novel T-->G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family. | Yang Z, etal., Mol Vis. 2012;18:1283-8. Epub 2012 May 15. |
| 23. | Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYbetaA3/A1. | Yu Y, etal., Mol Vis. 2012;18:2213-20. Epub 2012 Aug 8. |
| 24. | Differential proteomics analysis of proteins from human diabetic and age-related cataractous lenses. | Zhu J, etal., J Res Med Sci. 2013 Nov;18(11):984-9. |
| 25. | Mutation in the βA3/A1-crystallin gene impairs phagosome degradation in the retinal pigmented epithelium of the rat. | Zigler JS, etal., J Cell Sci. 2011 Feb 15;124(Pt 4):523-31. doi: 10.1242/jcs.078790. Epub 2011 Jan 25. |
Additional References at PubMed
| PMID:11773034 | PMID:14717595 | PMID:18587492 | PMID:21203897 | PMID:25736717 |
Genomics
Comparative Map Data
| Cryba1 (Rattus norvegicus - Norway rat) |
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| CRYBA1 (Homo sapiens - human) |
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| Cryba1 (Mus musculus - house mouse) |
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| Cryba1 (Chinchilla lanigera - long-tailed chinchilla) |
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| CRYBA1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| CRYBA1 (Canis lupus familiaris - dog) |
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| Cryba1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| CRYBA1 (Sus scrofa - pig) |
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| CRYBA1 (Chlorocebus sabaeus - green monkey) |
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| Cryba1 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Cryba1
11 total Variants 
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