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Rare diseases

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Galactosemia Proteins Database
Database portal | Web application
It is a a joint ISA-CNR/UniSA project: a database in which information are collected and...
Biochemistry, Genetic variation, Protein variants, Rare diseases
REDIportal
Web application
Database of A-to-I (deamination of adenosines to inosines) events that enables to search RNA editing...
Gene transcripts, Rare diseases, Sequence analysis, Transcriptomics
SIGNOR
Database portal
A tool collects manually-annotated logic relationships between molecules that participate in signal transduction.
Molecular interactions, pathways and networks, Rare diseases
FEATURED SERVICE
mentha
Web application
Resource for protein-protein interactions (PPI). It integrates data curated by experts in compliance with IMEx...
Protein interactions, Rare diseases
FEATURED SERVICE
MINT
Database portal | Web application
Molecular interaction Database (MINT) – public repository for protein-protein interactions (PPI) reported in peer-reviewed journals....
Data integration and warehousing, Molecular interactions, pathways and networks, Protein interactions, Rare diseases
FEATURED SERVICE
SNPs and GO
Web application
A server for the prediction of single point protein mutations likely to be involved in...
Data mining, Genetic variation, Protein sites, features and motifs, Rare diseases
FEATURED SERVICE
INPS-MD
Web application
Predicting the impact of mutations on protein stability from sequence and structure.
Genetic variation, Protein folding, stability and design, Rare diseases
HmtDB
Database portal | Web API | Web application
Database of human mitochondrial genomes from primary INSDC databases, personal submissions and application of MtoolBox...
DNA, Rare diseases
FEATURED SERVICE

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