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Database (Oxford). 2014 Jun 17;2014. pii: bau047. doi: 10.1093/database/bau047. Print 2014.

'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degeneration.

Author information

1
Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China.
2
Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, ChinaInstitute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China.
3
Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, ChinaInstitute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China jinzb@mail.eye.ac.cn jinzibing@foxmail.com.

Erratum in

  • Database (Oxford). 2014;2014:bau119.

Abstract

Inherited retinal degeneration (IRD), a leading cause of human blindness worldwide, is exceptionally heterogeneous with clinical heterogeneity and genetic variety. During the past decades, tremendous efforts have been made to explore the complex heterogeneity, and massive mutations have been identified in different genes underlying IRD with the significant advancement of sequencing technology. In this study, we developed a comprehensive database, 'RetinoGenetics', which contains informative knowledge about all known IRD-related genes and mutations for IRD. 'RetinoGenetics' currently contains 4270 mutations in 186 genes, with detailed information associated with 164 phenotypes from 934 publications and various types of functional annotations. Then extensive annotations were performed to each gene using various resources, including Gene Ontology, KEGG pathways, protein-protein interaction, mutational annotations and gene-disease network. Furthermore, by using the search functions, convenient browsing ways and intuitive graphical displays, 'RetinoGenetics' could serve as a valuable resource for unveiling the genetic basis of IRD. Taken together, 'RetinoGenetics' is an integrative, informative and updatable resource for IRD-related genetic predispositions. Database URL: http://www.retinogenetics.org/.

PMID:
24939193
PMCID:
PMC4060621
DOI:
10.1093/database/bau047
[Indexed for MEDLINE]
Free PMC Article

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