Skeleton Genetics: a comprehensive database for genes and mutations related to genetic skeletal disorders.

Chong Chen,Qingshuang Chen,Xinting Liu,Lin Hu,Chenyang Xu,Xueqin Xu,Yi Jiang,Denghui Chen,Yanbao Xiang,Shaohua Tang,Huanzheng Li

doi:10.1093/database/baw127

Abstract

Genetic skeletal disorders (GSD) involving the skeletal system arises through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their clinical heterogeneity and genetic variety. Over the past decades, tremendous effort platforms have been made to explore the complex heterogeneity, and massive new genes and mutations have been identified in different GSD, but the information supplied by literature is still limited and it is hard to meet the further needs of scientists and clinicians. In this study, combined with Nosology and Classification of genetic skeletal disorders, we developed the first comprehensive and annotated genetic skeletal disorders database, named ‘SkeletonGenetics’, which contains information about all GSD-related knowledge including 8225 mutations in 357 genes, with detailed information associated with 481 clinical diseases (2260 clinical phenotype) classified in 42 groups defined by molecular, biochemical and/or radiographic criteria from 1698 publications. Further annotations were performed to each entry including Gene Ontology, pathways analysis, protein–protein interaction, mutation annotations, disease–disease clustering and gene–disease networking. Furthermore, using concise search methods, intuitive graphical displays, convenient browsing functions and constantly updatable features, ‘SkeletonGenetics’ could serve as a central and integrative database for unveiling the genetic and pathways pre-dispositions of GSD.Database URL: http://101.200.211.232/skeletongenetics/

Highlights

The skeleton provides the structural framework in humans for muscle attachments, assists movement, protects organs, and maintains the homeostasis of the vascular systems [1]
Genetic skeletal disorders (GSD), which are a group of disorders involving gene mutations or genetic susceptibility to bone disease, account for most of the human skeletal dysplasias, involving a variety of pathogenic factors and diseases [3]
We reviewed three dependent databases and public resources related to genetic skeletal disorders and made the first annotated database about GSD, named ‘SkeletonGenetics’, which provides full-scale gene and mutation information and extensive annotations for GSD

Summary

Introduction

The skeleton provides the structural framework in humans for muscle attachments, assists movement, protects organs, and maintains the homeostasis of the vascular systems [1]. We reviewed three dependent databases and public resources related to genetic skeletal disorders and made the first annotated database about GSD, named ‘SkeletonGenetics’, which provides full-scale gene and mutation information and extensive annotations for GSD.

Results

Conclusion