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Rare diseases

FEATURED
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
mentha
Web application
Resource for protein-protein interactions (PPI). It integrates data curated by experts in compliance with IMEx...
Protein interactions, Rare diseases
FEATURED
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
DISNOR
Database portal
A disease-focused resource that uses the causal interaction information annotated in SIGNOR and the protein...
Molecular interactions, pathways and networks, Rare diseases
FEATURED
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
VHLdb
Database portal | Web API | Web application
A database of interactors and mutations of the human von Hippel-Lindau tumor suppressor protein (pVHL).
Protein interactions, Protein structure analysis, Rare diseases
eDGAR
Database portal | Web application
A database of Disease-Gene Associations with annotated Relationships among genes.
Human genetics, Pathology, Rare diseases
WS-SNPs and GO
Web application | Web service
A web server for predicting disease associated variations from protein sequence and structure.
Pathology, Protein properties, Rare diseases
FEATURED
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
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

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