title: Skeleton Genetics: a comprehensive database for genes and mutations related to genetic skeletal disorders.
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/.
authors: Department of Genetics of Dingli Clinical Medical School, Wenzhou Central Hospital, Wenzhou 325000, China.
authors: Chong
authors: C
authors: Chen
authors: Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325035, China.
authors: Yi
authors: Y
authors: Jiang
authors: Department of Genetics of Dingli Clinical Medical School, Wenzhou Central Hospital, Wenzhou 325000, China.
authors: Chenyang
authors: C
authors: Xu
authors: Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325035, China.
authors: Xinting
authors: X
authors: Liu
authors: School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou 325035, China.
authors: Lin
authors: L
authors: Hu
authors: Department of Genetics of Dingli Clinical Medical School, Wenzhou Central Hospital, Wenzhou 325000, China.
authors: Yanbao
authors: Y
authors: Xiang
authors: Department of Genetics of Dingli Clinical Medical School, Wenzhou Central Hospital, Wenzhou 325000, China.
authors: Qingshuang
authors: Q
authors: Chen
authors: Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325035, China.
authors: Denghui
authors: D
authors: Chen
authors: Department of Genetics of Dingli Clinical Medical School, Wenzhou Central Hospital, Wenzhou 325000, China.
authors: Huanzheng
authors: H
authors: Li
authors: Department of Genetics of Dingli Clinical Medical School, Wenzhou Central Hospital, Wenzhou 325000, China.
authors: Xueqin
authors: X
authors: Xu
authors: Department of Genetics of Dingli Clinical Medical School, Wenzhou Central Hospital, Wenzhou 325000, China School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou 325035, China tsh006@126.com.
authors: Shaohua
authors: S
authors: Tang
mesh_terms: D000818:Animals; D001847:Bone Diseases / Q000235:genetics* / Q000378:metabolism*; D030541:Databases, Genetic; D063990:Gene Ontology; D006801:Humans; D058977:Molecular Sequence Annotation; D009154:Mutation