DINAX

DINAX aggregates and curates gene variants associated with inherited ataxias to support variant identification and genotype–phenotype analysis.

Key Features:

• Content scope: Contains 7,166 genomic variants—including single nucleotide polymorphisms (SNPs), deletions, insertions, and translocations—associated with 185 genes linked to inherited ataxia.
• Data sources and curation: Aggregates variant information from OMIM and ClinVar with manual curation from published literature.
• Search methodology: Provides a dual gene-centric and phenotype-centric search approach to explore associations between specific genes, phenotypes, and variants.
• Variant classification support: Captures reported and unreported (novel) variants to facilitate identification and comparison against known entries.
• Pathway analysis: Includes pathway-level analysis to confirm relevance of genetic variants to ataxia and to inform molecular mechanism interpretation.

Scientific Applications:

• Clinical variant interpretation: Supports interpretation of variants for diagnosis of inherited ataxias and differentiation among phenotypically similar neurodegenerative disorders.
• Genotype–phenotype association studies: Enables correlation analyses between specific gene variants and ataxia phenotypes.
• Mechanistic research: Facilitates pathway-based investigations of molecular mechanisms underlying inherited ataxias.
• Variant discovery and validation: Aids identification and contextualization of novel or previously unreported variants in research cohorts.

Methodology:

Implemented as a MySQL relational database that aggregates variant information from OMIM and ClinVar with manual curation from published literature, and provides dual gene-centric and phenotype-centric search capabilities alongside pathway analysis.