GenTIGS is a comprehensive database that has a collection of genes and pathogenic variants associated with rare genetic disorders (RGDs). It is a platform developed to facilitate easy retrieval and analysis of information related to RGDs and the associated pathogenic variants (nonsynonymous mutation, microsatellites and duplication). The database lists the rare genetic disorders prevalent globally and in India, the associated or causative genes, the associated mutations, disorder description, gene ontology (GO) terms, clinical interpretation, and cross-references in the respective resources. GenTIGS has flexible search features, including a user-friendly browser and hyperlinks to different datasets. It covers extensive information on one platform for experimental and computational analyses of the disorders. The user-friendly mode of the GenTIGS carries sequences from the latest version of the Human Genome from genome resource. Published research articles and other databases were the primary data resource for information collection of disorders and associated genes. GenTIGS is a valuable platform for researchers, clinicians and academicians to get the desired information and to perform analysis for genes and variants associated with RGDs. The existing variants in GenTIGS were mapped to the released metadata of IndiGenomes for annotating variants and ascertaining their associated conditions.
Disorders | Disorders reported in India | Disorder catagories | Genes
2689 |
Transcripts (isoforms)
17374 |
GO terms
10026 |
PubMed records 291035 |
Clinical symptoms
3336 |
Pathogenic variants
281863 |
Updated on Jul 20, 2024 |