Filter
Reset all

Subjects

Content Types

Countries

AID systems

API

Data access

Database access

Database licenses

Data licenses

Data upload

Data upload restrictions

Enhanced publication

Institution responsibility type

Institution type

Keywords

PID systems

Provider types

Quality management

Repository languages

Software

Repository types

Versioning

  • * at the end of a keyword allows wildcard searches
  • " quotes can be used for searching phrases
  • + represents an AND search (default)
  • | represents an OR search
  • - represents a NOT operation
  • ( and ) implies priority
  • ~N after a word specifies the desired edit distance (fuzziness)
  • ~N after a phrase specifies the desired slop amount
  • 1 (current)
Found 9 result(s)

The USH1C mutations database

Subject(s)
Content type(s)
Country
>>> !!! the repository is offline !!! The current successor is https://www.lovd.nl/USH1C. <<< The database contains all the variants published as pathogenic mutations in the international literature up to November 2007. In addition, unpublished Usher mutations and non-pathogenic variants from the laboratory of Montpellier have been included.

Alzheimer Disease & Frontotemporal Dementia Mutation Database

AD & FTD Mutation Database

Subject(s)
Content type(s)
Country
<<<!!!<<< This repository is no longer available. >>>!!!>>>

Parkinson Disease Mutation Database

PDmutDB

Subject(s)
Content type(s)
Country
<<<!!!<<< This repository is no longer available. >>>!!!>>>

ALSoD

ALS Online Database

Subject(s)
Content type(s)
Country
ALSoD is a freely available database that has been transformed from a single gene storage facility recording mutations in the SOD1 gene to a multigene ALS bioinformatics repository and analytical instrument combining genotype, phenotype, and geographical information with associated analysis tools. These include a comparison tool to evaluate genes side by side or jointly with user configurable features, a pathogenicity prediction tool using a combination of computational approaches to distinguish variants with nonfunctional characteristics from disease-associated mutations with more dangerous consequences, and a credibility tool to enable ALS researchers to objectively assess the evidence for gene causation in ALS. Furthermore, integration of external tools, systems for feedback, annotation by users, and two-way links to collaborators hosting complementary databases further enhance the functionality of ALSoD.

Infevers

The registry of Auto-Inflammatory Disease mutations

Subject(s)
Content type(s)
Country
The ISSAID website gathers resources related to the systemic autoinflammatory diseases in order to facilitate contacts between interested physicians and researchers. The website provides support to share and rapidly disseminate information, thoughts, feelings and experiences to improve the quality of life of patients and families affected by systemic autoinflammatory diseases, and promote advances in the search for causes and cures.

CASRdb

Calcium Sensing Receptor Database

Subject(s)
Content type(s)
Country
<<<!!!<<< This repository is no longer available. >>>!!!>>> Message since 2018-06: This virtual host is being reconstructed.

PSnpBind

Subject(s)
Content type(s)
Country
PSnpBind is a large database of protein–ligand complexes covering a wide range of binding pocket mutations and small molecules’ landscape. This database can be used as a source of data for different types of studies, for example, developing machine learning algorithms to predict protein–ligand affinity or mutation's effect on it which requires an extensive amount of data with a wide coverage of mutation types and small molecules. Also, studies of protein-ligand interactions and conformer orientation changes across different mutated versions of a protein can be established using data from PSnpBind.

Rat Genome Database

RGD

Subject(s)
Content type(s)
Country
The Rat Genome Database is a collaborative effort between leading research institutions involved in rat genetic and genomic research. Its goal, as stated in RFA: HL-99-013 is the establishment of a Rat Genome Database, to collect, consolidate, and integrate data generated from ongoing rat genetic and genomic research efforts and make these data widely available to the scientific community. A secondary, but critical goal is to provide curation of mapped positions for quantitative trait loci, known mutations and other phenotypic data.

The Lafora Progressive Myoclonus Epilepsy Mutation and Polymorphism Database

The Lafora Database

Subject(s)
Content type(s)
Country
A curated database of mutations and polymorphisms associated with Lafora Progressive Myoclonus Epilepsy. The Lafora progressive myoclonus epilepsy mutation and polymorphism database is a collection of hand curated mutation and polymorphism data for the EPM2A and EPM2B (NHLRC1) from publicly available literature: databases and unpublished data. The database is continuously updated with information from in-house experimental data as well as data from published research studies.