Main logo
?
tutorial arrow
×
Submit new tools
Share tools covering the current topic. Provide easy-to-follow guidelines to improve their usability.
Share new tools with the community
Sign up for free to promote the availability of bioinformatics tools

Disease-specific variation databases | Genome variant analysis

HbVar
Dataset

HbVar Human Hemoglobin Variants and Thalassemias

Provides a locus-specific database. HbVar compiles information about genomic…

Provides a locus-specific database. HbVar compiles information about genomic sequence changes leading to hemoglobin variants, hemoglobinopathies all types of thalassemia. The database gathers…

Autism…
Dataset

Autism Chromosome Rearrangement Database

Gives access to a collection of hand curated breakpoints and other genomic…

Gives access to a collection of hand curated breakpoints and other genomic features, related to autism, taken from publicly available literature (databases and unpublished data). Autism Chromosome…

F-SNP
Dataset

F-SNP The Functional Single Nucleotide Polymorphism database

Compiles computationally predicted functional information about Single…

Compiles computationally predicted functional information about Single Nucleotide Polymorphism (SNPs). F-SNP aims to simplify identification of disease-causing SNPs in association studies. The…

Colorectal…
Dataset

Colorectal cancer atlas

An integrated web-based resource that catalogues the genomic and proteomic…

An integrated web-based resource that catalogues the genomic and proteomic annotations identified in colorectal cancer (CRC) tissues and cell lines. The data catalogued to-date include sequence…

Globin Gene…
Dataset

Globin Gene Server

Supplies contents and method to study DNA sequences. Globin Gene Server informs…

Supplies contents and method to study DNA sequences. Globin Gene Server informs about human hemoglobin mutations. It offers a list of experimental data and several types of software allowing…

Ion Channels…
Dataset

Ion Channels Variants Portal

Presents data on the molecular, cellular, and organ-level phenotypes caused by…

Presents data on the molecular, cellular, and organ-level phenotypes caused by genetic variations in the nine-human voltage-gated sodium channels. Ion Channels Variants Portal is a corpus of data of…

IthaGenes
Dataset
DIDA
Dataset

DIDA DIgenic diseases DAtabase

Provides for the first time detailed information on genes and associated…

Provides for the first time detailed information on genes and associated genetic variants involved in digenic diseases, the simplest form of oligogenic inheritance. DIDA currently includes 213…

HUMA
Dataset

HUMA Human Mutation Analysis

Provides a platform for analyzing variation. The HUMA interface includes tools…

Provides a platform for analyzing variation. The HUMA interface includes tools to analyze variation in protein sequence and structures. It contains information about sequence, structure, variation…

CFTR-France
Dataset

CFTR-France

Provides genetic information contents on the Cystic Fibrosis (CF) phenotype.…

Provides genetic information contents on the Cystic Fibrosis (CF) phenotype. The main objectives of CFTR-France were: (i) to collect all types of genetic data in each category of individuals who are…

EURO-WABB…
Dataset

EURO-WABB locus specific database

Provides catalogues of gene variations involved in monogenic diabetes…

Provides catalogues of gene variations involved in monogenic diabetes syndromes. The EURO-WABB locus specific database is an online resource that operates at a disease specific level to support…

GMTV
Dataset

GMTV Genome-wide Mycobacterium tuberculosis variation

Gathers information about M. tuberculosis. GMTV includes clinical,…

Gathers information about M. tuberculosis. GMTV includes clinical, epidemiological and microbiological description with genome variations based on whole genome sequencing data. It contains the whole…

BalbiEtAl2017
Dataset

BalbiEtAl2017

Provides high throughput datasets of stem cells. This database aims to model…

Provides high throughput datasets of stem cells. This database aims to model protein expression, particularly transcription factor (TF) expression, across multiple layers of stem cell regulation. The…

OUGene
Dataset

OUGene disease-associated Over- and Under-expressed Gene database

Provides the association information between gene over- or under-expression and…

Provides the association information between gene over- or under-expression and diseases. OUGene offers 41,269 unique associations between 7,238 over- or under-expressed genes and 1,480 diseases. It…

IthaChrom
Dataset

IthaChrom

Supports the diagnosis of structural haemoglobinopathies by providing digitised…

Supports the diagnosis of structural haemoglobinopathies by providing digitised anonymised reports of standard diagnostic High Pressure Liquid Chromatography (HPLC) analyses. IthaChrom is a database…

ARVD/C genetic variants database
Dataset
AutismKB
Dataset

AutismKB

A comprehensive knowledgebase of autism-related genes, CNVs and linkage regions…

A comprehensive knowledgebase of autism-related genes, CNVs and linkage regions with extensive evidence and annotations. AutismKB supports both text-based search and sequence-based search. Users can…

AutDB
Dataset

AutDB Autism DataBase

A database built on information extracted from peer-reviewed scientific and…

A database built on information extracted from peer-reviewed scientific and clinical studies on the molecular genetics and biology of autism spectrum disorders (ASD). AutDB‘s main feature is a…

SNCID
Dataset

SNCID Stanley Neuropathology Consortium Integrative Database

A data-mining tool that includes 379 neuropathology data sets from hippocampus,…

A data-mining tool that includes 379 neuropathology data sets from hippocampus, as well as RNA-seq data measured in 15 well-matched cases in each of four groups: schizophrenia, bipolar disorder…

www.erythrocyto…
Dataset

www.erythrocytosis.org

With the objective of collecting all the published and unpublished cases of…

With the objective of collecting all the published and unpublished cases of congenital erythrocytosis the COST action MPN&MPNr-Euronet developed a comprehensive Internet-based database focusing…

Amish,…
Dataset

Amish, Mennonite, and Hutterite Genetic Disorders Database

Assists in research and diagnosis of genetic conditions in Anabaptist groups.…

Assists in research and diagnosis of genetic conditions in Anabaptist groups. The Amish, Mennonite, and Hutterite Genetic Disorders Database focuses on single-gene Mendelian disorders and the…

HGV&TB
Dataset

HGV&TB Database for Human Genes and Genetic Variants associated with Tuberculosis

Hosts genetic variations reported to be associated with tuberculosis…

Hosts genetic variations reported to be associated with tuberculosis susceptibility in humans. HGV&TB currently houses information on 307 variations in 98 genes. In total, 101 of these variations…

RetinoschisisDB
Dataset

RetinoschisisDB

Provides X-linked Retinoschisis sequence variation database. RetinoschisisDB is…

Provides X-linked Retinoschisis sequence variation database. RetinoschisisDB is both a web-site and a sequence variation database. Users can access a comprehensive list of benign allelic variants…

MDPD
Dataset

MDPD Mutation Database for Parkinson's Disease

An integrated genetic information resource for Parkinson's disease. MDPD…

An integrated genetic information resource for Parkinson's disease. MDPD contains 2,391 entries on 202 genes extracted from 576 publications and manually examined by biomedical researchers. Each…

Information

By using OMICtools you acknowledge that you have read and accepted the terms of the end user license agreement.