Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Bloom syndrome | | ISO | RGD:1318705 | 8554872 | ClinVar Annotator: match by term: Bloom syndrome | ClinVar | PMID:28492532 | colorectal cancer | | ISO | RGD:1318705 | 8554872 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar | PMID:28492532 | exfoliation syndrome | | ISO | RGD:1318705 | 8554872 | ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to | ClinVar | PMID:17690259 more ... | schizophrenia | | ISO | RGD:1318705 | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106, PMID:30208311 | Tay-Sachs disease | | ISO | RGD:1318705 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease | ClinVar | PMID:1833974 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
|
| Save what matters to you |
| {{ loginError }} |
| Sign in with your RGD account |
| Create New Account | Recover Password |
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
|
||||||||
Imported Disease Annotations - CTD
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
Disease Annotations
Click to see Annotation Detail View
|
|
|
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
|
|
|
References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Differential expression of lysyl oxidases LOXL1 and LOX during growth and aging suggests specific roles in elastin and collagen fiber remodeling in rat aorta. | Behmoaras J, etal., Rejuvenation Res. 2008 Oct;11(5):883-9. doi: 10.1089/rej.2008.0760. |
| 2. | Molecular alterations underlying the enhanced disruption of spermatogenesis by 2,5-hexanedione and carbendazim co-exposure. | Campion SN, etal., Reprod Toxicol. 2012 Jun;33(3):382-9. doi: 10.1016/j.reprotox.2012.01.014. Epub 2012 Feb 8. |
| 3. | Maternal exposure to endotoxin delays alveolarization during postnatal rat lung development. | Cao L, etal., Am J Physiol Lung Cell Mol Physiol. 2009 May;296(5):L726-37. doi: 10.1152/ajplung.90405.2008. Epub 2009 Feb 13. |
| 4. | The LOXL1 gene variations are not associated with primary open-angle and primary angle-closure glaucomas. | Chakrabarti S, etal., Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2343-7. doi: 10.1167/iovs.07-1557. Epub 2008 Jan 25. |
| 5. | Atomic force microscopy-based antibody recognition imaging of proteins in the pathological deposits in pseudoexfoliation syndrome. | Creasey R, etal., Ultramicroscopy. 2011 Jul;111(8):1055-61. doi: 10.1016/j.ultramic.2011.03.008. Epub 2011 Mar 21. |
| 6. | LOXL1 promoter haplotypes are associated with exfoliation syndrome in a U.S. Caucasian population. | Fan BJ, etal., Invest Ophthalmol Vis Sci. 2011 Apr 12;52(5):2372-8. doi: 10.1167/iovs.10-6268. Print 2011 Apr. |
| 7. | Polymorphisms in ARMS2 (LOC387715) and LOXL1 genes in the Japanese with age-related macular degeneration. | Fuse N, etal., Am J Ophthalmol. 2011 Mar;151(3):550-6.e1. doi: 10.1016/j.ajo.2010.08.048. Epub 2011 Jan 13. |
| 8. | 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. |
| 9. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 10. | Evaluation of LOXL1 polymorphisms in primary open-angle glaucoma in southern and northern Chinese. | Gong WF, etal., Mol Vis. 2008;14:2381-9. Epub 2008 Dec 19. |
| 11. | Association of LOXL1 gene polymorphisms with exfoliation syndrome/glaucoma and primary open angle glaucoma in a Turkish population. | Kasim B, etal., Mol Vis. 2013;19:114-20. Epub 2013 Jan 28. |
| 12. | Association of LOXL1 polymorphisms with pseudoexfoliation in the Chinese. | Lee KY, etal., Mol Vis. 2009 Jun 4;15:1120-6. |
| 13. | The role of lysyl oxidase-like 1 DNA copy number variants in exfoliation glaucoma. | Liu Y, etal., Mol Vis. 2012;18:2976-81. Epub 2012 Dec 14. |
| 14. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 15. | Role of Lysyl oxidase-like 1 gene polymorphisms in Pakistani patients with pseudoexfoliative glaucoma. | Micheal S, etal., Mol Vis. 2012;18:1040-4. Epub 2012 Apr 25. |
| 16. | Comparison of gene expression profiling in pressure and volume overload-induced myocardial hypertrophies in rats. | Miyazaki H, etal., Hypertens Res. 2006 Dec;29(12):1029-45. |
| 17. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 18. | TT polymorphism in rs2165241 and rs1048661 region in lysyl oxidase like-1 gene may have a role in stress urinary incontinence physiopathology. | Ozbek E, etal., J Obstet Gynaecol Res. 2013 Jan;39(1):237-42. doi: 10.1111/j.1447-0756.2012.01942.x. Epub 2012 Jul 6. |
| 19. | An investigation into LOXL1 variants in black South African individuals with exfoliation syndrome. | Rautenbach RM, etal., Arch Ophthalmol. 2011 Feb;129(2):206-10. doi: 10.1001/archophthalmol.2010.349. |
| 20. | GOA pipeline | RGD automated data pipeline |
| 21. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 22. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 23. | The Pro-regions of lysyl oxidase and lysyl oxidase-like 1 are required for deposition onto elastic fibers. | Thomassin L, etal., J Biol Chem. 2005 Dec 30;280(52):42848-55. Epub 2005 Oct 26. |
| 24. | Lyst mutation in mice recapitulates iris defects of human exfoliation syndrome. | Trantow CM, etal., Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1205-14. doi: 10.1167/iovs.08-2791. Epub 2008 Nov 21. |
| 25. | Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma. | Wolf C, etal., J Glaucoma. 2010 Feb;19(2):136-41. doi: 10.1097/IJG.0b013e31819f9330. |
| 26. | Increased choroidal neovascularization following laser induction in mice lacking lysyl oxidase-like 1. | Yu HG, etal., Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2599-605. doi: 10.1167/iovs.07-1508. Epub 2008 Feb 22. |
Additional References at PubMed
| PMID:10022501 | PMID:12477932 | PMID:15482472 | PMID:20551380 | PMID:24006456 | PMID:26804196 | PMID:27068509 | PMID:33563876 |
Genomics
